Oculocutaneous Albinism

1. Disease Information

Overview / definition

Oculocutaneous albinism (OCA) comprises inherited disorders characterized by reduced or absent melanin biosynthesis affecting eyes, skin, and hair, with characteristic ocular manifestations (e.g., reduced visual acuity, foveal hypoplasia, nystagmus, iris transillumination) and increased UV-related skin disease risk. (ambrosio2025advancinginsightsinto pages 11-13, thomas2023oculocutaneousalbinismanda pages 1-3, kromberg2023determiningaworldwide pages 1-2)

Key identifiers (available from retrieved evidence)

• MeSH: Albinism, Oculocutaneous D016115 (ClinicalTrials.gov browse terms). (NCT07313618 chunk 2)
• MeSH (broader): Albinism D000417. (NCT01176435 chunk 1)
• ICD-10: E70.3 (Albinism) explicitly referenced in a genomic medicine cohort paper using ICD-10 coding. (fassad2026wholegenomesequencinguncovers pages 5-8)
• OMIM (gene/subtype IDs in GeneReviews excerpt): OCA1/TYR 606933, OCA2 611409, OCA3/TYRP1 115501, OCA6/SLC24A5 609802, OCA7/LRMDA 614537, OCA8/DCT 191275, and ocular albinism OA1/GPR143 300808. (thomas2023oculocutaneousalbinismand pages 7-8)

Not captured in retrieved texts during this run: Orphanet/ORDO ORPHA codes, ICD-11 codes, and MONDO identifiers for OCA. (NCT07313618 chunk 2, NCT00001153 chunk 1, NCT04068961 chunk 1)

Synonyms / alternative names (as used in evidence)

• “Oculocutaneous albinism type 1 (OCA1)” (TYR-related). (NCT07313618 chunk 1)
• “Oculocutaneous albinism type 1B (OCA1B)” (residual tyrosinase activity phenotype; nitisinone trial enrollment definition). (NCT01838655 chunk 1, NCT01838655 chunk 7)
• “Ocular albinism (OA)” (often GPR143-related; X-linked). (chan2023diagnosticyieldof pages 1-2, thomas2023oculocutaneousalbinismand pages 16-18)

Evidence source type

The information summarized here is derived from aggregated disease-level resources (GeneReviews overview; systematic review) and cohort studies/trials rather than EHR-only sources. (kromberg2023determiningaworldwide pages 1-2, thomas2023oculocutaneousalbinismand pages 13-16, chan2023diagnosticyieldof pages 2-4)

2. Etiology

Disease causal factors

Primary cause: germline genetic variants disrupting melanogenesis and/or melanosome function. Canonical OCA results from impaired melanin biosynthesis (e.g., TYR) or altered melanosomal homeostasis/biogenesis (e.g., OCA2, SLC45A2). (ambrosio2025advancinginsightsinto pages 11-13, thomas2023oculocutaneousalbinismand pages 13-16)

Genetic risk factors (causal genes)

GeneReviews lists nonsyndromic OCA genes: TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA (C10orf11), DCT, inherited autosomal recessive; ocular albinism due to GPR143 is X-linked. (thomas2023oculocutaneousalbinismand pages 13-16, thomas2023oculocutaneousalbinismand pages 16-18)

Recent (2024) developments: oligogenic/common-variant contributions

A 2024 Nature Communications study reported that dual heterozygosity for TYR:c.1205G>A (p.Arg402Gln; rs1126809) and OCA2:c.1327G>A (p.Val443Ile; rs74653330) is associated with increased probability of an albinism diagnosis (OR 12.8; 95% CI 6.0–24.7; p=2.1×10−8), and is associated with altered visual acuity and central retinal thickness (endophenotypes). (green2024thecooccurrenceof pages 1-2, green2024thecooccurrenceof pages 2-3)

Environmental risk factors

OCA itself is genetic, but UV exposure is a major determinant of cutaneous morbidity (sun damage, precancer/cancer), motivating strict photoprotection and surveillance. (thomas2023oculocutaneousalbinismand pages 13-16)

Protective factors / gene-environment interactions

No specific protective genetic variants were identified in the retrieved sources in this run. Clinically, sun avoidance and photoprotection reduce downstream UV-related skin disease risk (gene–environment: congenital hypopigmentation increases UV sensitivity; UV behavior modifies outcomes). (thomas2023oculocutaneousalbinismand pages 13-16)

3. Phenotypes

Core ocular phenotypes (with frequencies where available)

A U.S. pediatric cohort (genetically tested OA/OCA; n=53 tested) reported the following phenotype frequencies: - Nystagmus: 89% (chan2023diagnosticyieldof pages 2-4) - Foveal hypoplasia: 85% (chan2023diagnosticyieldof pages 2-4) - Fundus hypopigmentation: 68% (chan2023diagnosticyieldof pages 2-4) - Iris transillumination defects: 38% (chan2023diagnosticyieldof pages 2-4)

GeneReviews summary series report very high frequency of key ocular signs (useful for diagnosis): iris transillumination defects ~91–100%, fundus hypopigmentation >94%, foveal hypoplasia 94–100%, and chiasmal misrouting 84–100%. (thomas2023oculocutaneousalbinismanda pages 1-3)

Additional quantitative clinical descriptors from GeneReviews include strabismus affecting ~71% overall (up to 100% in OCA1), and visual acuity spanning roughly 20/15 to 20/800 with median ~20/80 (logMAR ~0.60). (thomas2023oculocutaneousalbinismand pages 3-7)

Neurodevelopmental and behavioral phenotype (2023 pediatric cohort)

A 2023 European Journal of Pediatrics cohort (18 children, molecularly confirmed OCA) found: - Global neurodevelopmental impairment in 56%, not evolving into intellectual disability. (galli2023oculocutaneousalbinismthe pages 1-2) - Behavioral screening risks: internalizing problems 33%, externalizing 11%, both 28%; autistic-like features in 67% (none meeting autism criteria in that report). (galli2023oculocutaneousalbinismthe pages 1-2, galli2023oculocutaneousalbinismthe pages 5-6) - Visual acuity correlated with performance IQ and adaptive functioning measures. (galli2023oculocutaneousalbinismthe pages 1-2)

Skin/dermatologic phenotype

OCA is associated with increased risk of UV-related skin disease and skin cancers; melanoma detection can be challenging because melanomas may be amelanotic in albinism, motivating regular dermatologic surveillance. (thomas2023oculocutaneousalbinismand pages 13-16)

Suggested HPO terms (examples)

See ontology mapping artifact below (includes HP terms for foveal hypoplasia, nystagmus, strabismus, photophobia, reduced visual acuity, etc.).

4. Genetic / Molecular Information

Causal genes and inheritance

• Autosomal recessive nonsyndromic OCA: TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, DCT. (thomas2023oculocutaneousalbinismand pages 13-16)
• X-linked ocular albinism: GPR143. (thomas2023oculocutaneousalbinismand pages 16-18)

The GeneReviews excerpt provides OMIM subtype identifiers for multiple OCA loci (useful for knowledge base cross-references). (thomas2023oculocutaneousalbinismand pages 7-8)

Pathogenic/likely pathogenic variants and variant architecture (recent genetics)

A 2024 study supports an oligogenic susceptibility model for at least a subset of individuals: the TYR p.Arg402Gln and OCA2 p.Val443Ile combination increases diagnosis probability (OR 12.8). (green2024thecooccurrenceof pages 2-3)

Functional consequences and molecular profiling (iPSC model; 2024)

A 2024 iPSC-derived retinal pigment epithelium (RPE) model of OCA1A supports a mechanism in which mutant tyrosinase is absent or inactive and mature pigmented melanosomes are lacking: - TYR mutant misfolding/ER retention and loss of enzymatic activity are discussed as upstream events. (subramani2024generationandcharacterization pages 1-2) - OCA1A RPE showed no pigmented stage III/IV melanosomes, markedly reduced melanin, and absent TYR protein/activity on Western blot and enzyme assays. (subramani2024generationandcharacterization pages 8-11)

Suggested GO / CL terms

See ontology mapping artifact below for suggested GO processes/components (melanin biosynthesis, melanosome organization; ER protein folding) and cell types (melanocyte; retinal pigment epithelial cell; retinal ganglion cell). (subramani2024generationandcharacterization pages 8-11, thomas2023oculocutaneousalbinismanda pages 1-3)

5. Environmental Information

OCA is not environmentally caused; environmental exposures mainly modify downstream morbidity. The primary modifiable environmental factor is UV exposure, which drives sun damage and skin cancer risk in the context of hypopigmented skin. (thomas2023oculocutaneousalbinismand pages 13-16)

6. Mechanism / Pathophysiology

Core causal chain (gene → cell biology → clinical manifestations)

1. Upstream genetic defect in melanogenesis genes (e.g., TYR, OCA2) reduces melanin biosynthesis or disrupts melanosome function. (ambrosio2025advancinginsightsinto pages 11-13, thomas2023oculocutaneousalbinismand pages 13-16)
2. Cellular/subcellular dysfunction: In TYR-related OCA1A, tyrosinase can be misfolded/retained and enzymatically inactive, yielding absent melanin and abnormal melanosome maturation; iPSC-RPE evidence supports absence of mature pigmented melanosomes and absent TYR activity/protein. (subramani2024generationandcharacterization pages 1-2, subramani2024generationandcharacterization pages 8-11)
3. Tissue-level ocular developmental effects: impaired retinal pigmentation associates with foveal hypoplasia and abnormal optic pathway development/misrouting, which contributes to nystagmus, reduced acuity, and strabismus. (ambrosio2025advancinginsightsinto pages 11-13, thomas2023oculocutaneousalbinismanda pages 1-3)

Pathway-level notes

• TYR is described as initiating melanogenesis by converting L-tyrosine to L-DOPA and downstream intermediates. (ambrosio2025advancinginsightsinto pages 11-13)
• OCA2 can modulate melanosome pH, impacting tyrosinase activity (a mechanistic basis for modifier/interaction effects, consistent with oligogenic susceptibility findings). (green2024thecooccurrenceof pages 2-3)

Suggested GO terms / CL terms

Included in artifact-01. (subramani2024generationandcharacterization pages 8-11, thomas2023oculocutaneousalbinismanda pages 1-3)

7. Anatomical Structures Affected

Organ/system level

• Eye/visual system (retina/fovea; optic chiasm/visual pathways): major morbidity and disability driver. (ambrosio2025advancinginsightsinto pages 11-13, thomas2023oculocutaneousalbinismanda pages 1-3)
• Skin: hypopigmentation and UV susceptibility, including skin cancer surveillance burden. (thomas2023oculocutaneousalbinismand pages 13-16)

Tissue/cell level

• Retinal pigment epithelium (RPE) is a key ocular pigment cell population; patient iPSC-derived RPE demonstrates disease-recapitulating pigmentation defects in TYR-related OCA1A. (subramani2024generationandcharacterization pages 1-2, subramani2024generationandcharacterization pages 8-11)

Suggested UBERON terms

Included in artifact-01. (thomas2023oculocutaneousalbinismanda pages 1-3, thomas2023oculocutaneousalbinismand pages 13-16)

8. Temporal Development

OCA is typically congenital/early onset, with visual impairment present from infancy/childhood. Neurodevelopmental delays in the 2023 pediatric cohort appeared early (56% global impairment) and were reported not to progress to intellectual disability. (galli2023oculocutaneousalbinismthe pages 1-2)

9. Inheritance and Population

Inheritance

• Nonsyndromic OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, DCT): autosomal recessive. (thomas2023oculocutaneousalbinismand pages 13-16)
• Ocular albinism (GPR143): X-linked. (thomas2023oculocutaneousalbinismand pages 16-18)

Epidemiology (systematic review; 2023)

A 2023 systematic review found that OCA prevalence estimates are geographically uneven and often outdated: - Only 26/193 countries (13%) had published OCA prevalence figures; studies were disproportionately from Africa. (kromberg2023determiningaworldwide pages 1-2) - Highest prevalence in population isolates ranged 1 in 22 to 1 in 1300 (mean 1 in 464). (kromberg2023determiningaworldwide pages 1-2) - Mean prevalence across four African countries: 1 in 4264 (range 1 in 1755–1 in 7900). (kromberg2023determiningaworldwide pages 1-2) - European estimates (three countries): mean ~1 in 12,000 (range 1 in 10,000–1 in 15,000), potentially underestimated in fair-skinned populations. (kromberg2023determiningaworldwide pages 1-2, kromberg2023determiningaworldwide pages 3-5)

A key data table from this review is captured as an image (see cited table). (kromberg2023determiningaworldwide media 0f424986)

10. Diagnostics

Clinical diagnostic features

High-frequency ocular signs include iris transillumination, fundus hypopigmentation, foveal hypoplasia, nystagmus, and optic pathway misrouting; VEP can support misrouting diagnosis, and OCT supports foveal hypoplasia grading (correlating with visual acuity). (thomas2023oculocutaneousalbinismanda pages 1-3)

Genetic testing yield and real-world implementation (2023)

In a diverse U.S. pediatric cohort, genetic testing had a high diagnostic yield: - Initial yield 66%, increasing to 70% after VUS reinterpretation; yield higher for OCA (76%) than OA (33%, p=0.007). (chan2023diagnosticyieldof pages 1-2) - Most common solved genes were OCA2 (28%) and TYR (20%); Hermansky–Pudlak syndrome variants were identified in 9%. (chan2023diagnosticyieldof pages 1-2)

These data support real-world practice of using multigene panels/exome approaches with periodic reinterpretation of variants. (chan2023diagnosticyieldof pages 2-4)

Differential diagnosis

Syndromic albinism conditions (e.g., Hermansky–Pudlak, Chediak–Higashi) and other pigment/retinal disorders should be considered when systemic features (bleeding diathesis, immunodeficiency, etc.) are present. (ambrosio2025advancinginsightsinto pages 11-13, chan2023diagnosticyieldof pages 1-2)

11. Outcome / Prognosis

Life expectancy is typically not reduced in nonsyndromic OCA, but morbidity is substantial due to lifelong low vision and preventable skin cancer burden; squamous/basal cell carcinomas can contribute to mortality in high UV environments. (kromberg2023determiningaworldwide pages 1-2, thomas2023oculocutaneousalbinismand pages 13-16)

12. Treatment

Current standard management (supportive; real-world implementation)

GeneReviews emphasizes multidisciplinary supportive care: - Ophthalmology surveillance: annual evaluations in children (<16 years), including refractive correction, strabismus/head posture assessment, and filter glasses. (thomas2023oculocutaneousalbinismand pages 13-16) - Low-vision/education interventions: early intervention programs, individualized education plans (IEP), accommodations (magnifiers, enlarged text, assistive technology). (thomas2023oculocutaneousalbinismand pages 13-16) - Dermatology: yearly total body skin exam is recommended with low biopsy threshold; melanoma can be difficult to detect because it may lack pigment; annual to biennial skin examination is recommended depending on exposure and context. (thomas2023oculocutaneousalbinismand pages 13-16) - Avoidance: prolonged unprotected sun exposure should be avoided. (thomas2023oculocutaneousalbinismand pages 13-16)

Emerging/experimental therapies and trials

Nitisinone (OCA1B): A completed NIH/NEI pilot phase 1/2 study (NCT01838655; ClinicalTrials.gov) tested 2 mg oral nitisinone daily for 12 months in 5 adults with OCA1B; the primary endpoint was change in iris pigmentation on an 8-point iris transillumination scale at 12 months, with visual function and pigmentation secondary outcomes. (NCT01838655 chunk 1)

Levodopa (L-DOPA): A completed randomized, placebo-controlled, double-masked phase 2 trial (NCT01176435) enrolled 45 participants (ages 3–60) and tested oral levodopa/carbidopa dosing vs placebo with binocular BCVA as primary outcome over 20 weeks. (NCT01176435 chunk 1)

Gene therapy (OCA1): A recruiting Early Phase 1 trial (NCT07313618; first posted 2026-01-02) tests JWK010 (AAV vector encoding tyrosinase) via a single suprachoroidal injection (3+3 dose escalation; up to 18 children aged 5–12 with biallelic TYR pathogenic variants). Outcomes include safety, BCVA, fundus pigmentation, OCT, ERG, and VEP/MRI optic pathway measures. (NCT07313618 chunk 1)

Suggested MAXO terms

Included in artifact-01 (genetic counseling, ophthalmologic examination, photoprotection, dermatologic surveillance, gene therapy, nitisinone therapy, levodopa therapy). (thomas2023oculocutaneousalbinismand pages 13-16, NCT01838655 chunk 1)

13. Prevention

Primary prevention of OCA is not currently possible (genetic), but prevention of complications is central: - Tertiary prevention: strict photoprotection, avoidance of unprotected sun exposure, and regular dermatologic surveillance to prevent/early-detect precancerous/cancerous lesions. (thomas2023oculocutaneousalbinismand pages 13-16) - Secondary prevention (functional): early vision services and educational accommodations to mitigate developmental/educational impacts of low vision. (thomas2023oculocutaneousalbinismand pages 13-16, galli2023oculocutaneousalbinismthe pages 1-2)

14. Other Species / Natural Disease

No OMIA/veterinary natural disease resources were retrieved in this run. (gap noted)

15. Model Organisms

A 2024 patient-derived iPSC-RPE “disease-in-a-dish” model provides a human cellular model of TYR-related OCA1A with absent pigmentation, absent TYR protein/activity, and defects in mature melanosomes, supporting mechanistic studies and therapeutic development. (subramani2024generationandcharacterization pages 1-2, subramani2024generationandcharacterization pages 8-11)

Embedded Evidence Artifacts

Evidence map table (genes, phenotypes, epidemiology, trials)

Table: This table summarizes core disease concepts, genes, phenotype frequencies, epidemiology, and current/emerging interventions for oculocutaneous albinism using the cited GeneReviews, cohort, systematic review, and ClinicalTrials.gov sources. It is useful as a compact evidence map for a disease knowledge base entry.

Ontology mapping table (HPO/GO/CL/UBERON/MAXO suggestions)

Table: This table maps major oculocutaneous albinism phenotypes, mechanisms, anatomical sites, cell types, and management strategies to suggested ontology terms. It is designed as a knowledge-base ready artifact that links clinical and mechanistic evidence to HPO, GO, CL, UBERON, and MAXO concepts with supporting citations.

Key visual evidence (epidemiology table image)

The prevalence-by-continent table from the 2023 systematic review is provided as a cropped figure for direct use in epidemiology extraction workflows. (kromberg2023determiningaworldwide media 0f424986)

Notes on evidence gaps relative to requested template

• MONDO / Orphanet / ICD-11 identifiers: not present in the retrieved evidence during this run; would require direct ontology/registry queries beyond the current tool evidence set. (NCT07313618 chunk 2, NCT04068961 chunk 1)
• PMIDs: Some items (e.g., GeneReviews overview and ClinicalTrials.gov records) are not primarily indexed by PMID; where possible, the GeneReviews reference list indicates related PubMed-indexed trials/papers, but PMIDs were not consistently extractable from the current text chunks. (thomas2023oculocutaneousalbinismand pages 16-18, NCT01838655 chunk 1)

References

1. (ambrosio2025advancinginsightsinto pages 11-13): Lucia Ambrosio, Tatiana Perepelkina, Abdelrahman M. Elhusseiny, Anne B. Fulton, and Jose Efren Gonzalez Monroy. Advancing insights into pediatric macular diseases: a comprehensive review. Journal of Clinical Medicine, 14:614, Jan 2025. URL: https://doi.org/10.3390/jcm14020614, doi:10.3390/jcm14020614. This article has 4 citations.

2. (thomas2023oculocutaneousalbinismanda pages 1-3): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

3. (kromberg2023determiningaworldwide pages 1-2): Jennifer G. R. Kromberg, Kaitlyn A. Flynn, and Robyn A. Kerr. Determining a worldwide prevalence of oculocutaneous albinism: a systematic review. Investigative Opthalmology & Visual Science, 64:14, Jul 2023. URL: https://doi.org/10.1167/iovs.64.10.14, doi:10.1167/iovs.64.10.14. This article has 61 citations.

4. (NCT07313618 chunk 2): Fang Lu. Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1). West China Hospital. 2025. ClinicalTrials.gov Identifier: NCT07313618

5. (NCT01176435 chunk 1): Trial of L-DOPA as a Treatment to Improve Vision in Albinism. University of Minnesota. 2010. ClinicalTrials.gov Identifier: NCT01176435

6. (fassad2026wholegenomesequencinguncovers pages 5-8): Mahmoud R. Fassad, Pradeep C. Vasudevan, Julian Barwell, Gail DE Maconachie, Savita Madhusudhan, David Hunt, Irene Gottlob, Mariya Moosajee, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, and Mervyn G. Thomas. Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism. npj Genomic Medicine, May 2026. URL: https://doi.org/10.1038/s41525-026-00580-1, doi:10.1038/s41525-026-00580-1. This article has 0 citations and is from a peer-reviewed journal.

7. (thomas2023oculocutaneousalbinismand pages 7-8): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

8. (NCT00001153 chunk 1): Visual Function and Ocular Pigmentation in Albinism. National Eye Institute (NEI). 1976. ClinicalTrials.gov Identifier: NCT00001153

9. (NCT04068961 chunk 1): New Strategies of Genetic Study of Patients With Oculocutaneous Albinism. University Hospital, Bordeaux. 2010. ClinicalTrials.gov Identifier: NCT04068961

10. (NCT07313618 chunk 1): Fang Lu. Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1). West China Hospital. 2025. ClinicalTrials.gov Identifier: NCT07313618

11. (NCT01838655 chunk 1): Nitisinone for Type 1B Oculocutaneous Albinism. National Eye Institute (NEI). 2013. ClinicalTrials.gov Identifier: NCT01838655

12. (NCT01838655 chunk 7): Nitisinone for Type 1B Oculocutaneous Albinism. National Eye Institute (NEI). 2013. ClinicalTrials.gov Identifier: NCT01838655

13. (chan2023diagnosticyieldof pages 1-2): Kyle S Chan, Brenda L. Bohnsack, Alexander Ing, Andrew Drackley, Valerie Castelluccio, Kevin X. Zhang, Hantamalala Ralay-Ranaivo, and Jennifer L. Rossen. Diagnostic yield of genetic testing for ocular and oculocutaneous albinism in a diverse united states pediatric population. Genes, 14:135, Jan 2023. URL: https://doi.org/10.3390/genes14010135, doi:10.3390/genes14010135. This article has 13 citations.

14. (thomas2023oculocutaneousalbinismand pages 16-18): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

15. (thomas2023oculocutaneousalbinismand pages 13-16): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

16. (chan2023diagnosticyieldof pages 2-4): Kyle S Chan, Brenda L. Bohnsack, Alexander Ing, Andrew Drackley, Valerie Castelluccio, Kevin X. Zhang, Hantamalala Ralay-Ranaivo, and Jennifer L. Rossen. Diagnostic yield of genetic testing for ocular and oculocutaneous albinism in a diverse united states pediatric population. Genes, 14:135, Jan 2023. URL: https://doi.org/10.3390/genes14010135, doi:10.3390/genes14010135. This article has 13 citations.

17. (green2024thecooccurrenceof pages 1-2): David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, and Panagiotis I. Sergouniotis. The co-occurrence of genetic variants in the tyr and oca2 genes confers susceptibility to albinism. Nature Communications, Sep 2024. URL: https://doi.org/10.1038/s41467-024-52763-y, doi:10.1038/s41467-024-52763-y. This article has 9 citations and is from a highest quality peer-reviewed journal.

18. (green2024thecooccurrenceof pages 2-3): David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, and Panagiotis I. Sergouniotis. The co-occurrence of genetic variants in the tyr and oca2 genes confers susceptibility to albinism. Nature Communications, Sep 2024. URL: https://doi.org/10.1038/s41467-024-52763-y, doi:10.1038/s41467-024-52763-y. This article has 9 citations and is from a highest quality peer-reviewed journal.

19. (thomas2023oculocutaneousalbinismand pages 3-7): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

20. (galli2023oculocutaneousalbinismthe pages 1-2): Jessica Galli, Erika Loi, Laura Dusi, Nadia Pasini, Andrea Rossi, Vera Scaglioni, Lucia Mauri, and Elisa Fazzi. Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. European Journal of Pediatrics, 182:2723-2733, Apr 2023. URL: https://doi.org/10.1007/s00431-023-04938-w, doi:10.1007/s00431-023-04938-w. This article has 14 citations and is from a peer-reviewed journal.

21. (galli2023oculocutaneousalbinismthe pages 5-6): Jessica Galli, Erika Loi, Laura Dusi, Nadia Pasini, Andrea Rossi, Vera Scaglioni, Lucia Mauri, and Elisa Fazzi. Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. European Journal of Pediatrics, 182:2723-2733, Apr 2023. URL: https://doi.org/10.1007/s00431-023-04938-w, doi:10.1007/s00431-023-04938-w. This article has 14 citations and is from a peer-reviewed journal.

22. (subramani2024generationandcharacterization pages 1-2): Janavi Subramani, Niharika Patlolla, Rajani Battu, Taslimarif Saiyed, and Rajarshi Pal. Generation and characterization of retinal pigment epithelium from patient ipsc line to model oculocutaneous albinism (oca)1a disease. Journal of Biosciences, 49:1-14, Jan 2024. URL: https://doi.org/10.1007/s12038-023-00406-7, doi:10.1007/s12038-023-00406-7. This article has 5 citations and is from a peer-reviewed journal.

23. (subramani2024generationandcharacterization pages 8-11): Janavi Subramani, Niharika Patlolla, Rajani Battu, Taslimarif Saiyed, and Rajarshi Pal. Generation and characterization of retinal pigment epithelium from patient ipsc line to model oculocutaneous albinism (oca)1a disease. Journal of Biosciences, 49:1-14, Jan 2024. URL: https://doi.org/10.1007/s12038-023-00406-7, doi:10.1007/s12038-023-00406-7. This article has 5 citations and is from a peer-reviewed journal.

24. (kromberg2023determiningaworldwide pages 3-5): Jennifer G. R. Kromberg, Kaitlyn A. Flynn, and Robyn A. Kerr. Determining a worldwide prevalence of oculocutaneous albinism: a systematic review. Investigative Opthalmology & Visual Science, 64:14, Jul 2023. URL: https://doi.org/10.1167/iovs.64.10.14, doi:10.1167/iovs.64.10.14. This article has 61 citations.

25. (kromberg2023determiningaworldwide media 0f424986): Jennifer G. R. Kromberg, Kaitlyn A. Flynn, and Robyn A. Kerr. Determining a worldwide prevalence of oculocutaneous albinism: a systematic review. Investigative Opthalmology & Visual Science, 64:14, Jul 2023. URL: https://doi.org/10.1167/iovs.64.10.14, doi:10.1167/iovs.64.10.14. This article has 61 citations.

26. (NCT01838655 chunk 8): Nitisinone for Type 1B Oculocutaneous Albinism. National Eye Institute (NEI). 2013. ClinicalTrials.gov Identifier: NCT01838655

27. (thomas2023oculocutaneousalbinismanda pages 3-7): MG Thomas, J Zippin, and BP Brooks. Oculocutaneous albinism and ocular albinism overview. Unknown journal, 2023.

28. (galli2023oculocutaneousalbinismthe pages 4-5): Jessica Galli, Erika Loi, Laura Dusi, Nadia Pasini, Andrea Rossi, Vera Scaglioni, Lucia Mauri, and Elisa Fazzi. Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective. European Journal of Pediatrics, 182:2723-2733, Apr 2023. URL: https://doi.org/10.1007/s00431-023-04938-w, doi:10.1007/s00431-023-04938-w. This article has 14 citations and is from a peer-reviewed journal.

Artifacts

• Edison artifact artifact-00
• Edison artifact artifact-01