Home / Deep Research / Central Areolar Choroidal Dystrophy

Central Areolar Choroidal Dystrophy

1. Disease Information

2026-06-16
Falcon MONDO:0008982 Model: Edison Scientific Literature 33 citations

1. Disease Information

1.1 Definition and current understanding

CACD is a rare hereditary macular dystrophy characterized by bilateral, symmetric, well-circumscribed macular loss of retinal pigment epithelium (RPE), choriocapillaris, and overlying retina, leading to progressive—often profound—central vision loss. (camargo2022newinsightson pages 1-2)

A 2022 systematic review summarizes CACD as a macula-predominant dystrophy with typical onset “between the third and fifth decades,” and emphasizes that there is no effective treatment that prevents progression. (camargo2022newinsightson pages 1-2)

Direct abstract quote (definition): “Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration…” (Ruiz-Pastor et al., 2023; Cell Death & Disease; published Nov 2023; https://doi.org/10.1038/s41419-023-06243-8). (ruizpastor2023prph2knockinmice pages 1-2)

1.2 Key identifiers

1.3 Synonyms and alternative names

  • “CACD” (abbreviation) and “central areolar chorioretinal dystrophy” appear in recent PRPH2 longitudinal phenotyping work describing diffuse RPE atrophy “consistent with central areolar chorioretinal dystrophy (CACD).” (seddon2024clinicalandimaging pages 1-2)

2. Etiology

2.1 Disease causal factors

CACD is primarily genetic (Mendelian), with both autosomal dominant and rarer recessive inheritance reported. (camargo2022newinsightson pages 1-2, abeshi2017genetictestingfor pages 3-3)

A 2022 systematic review identified mutations in six genes as implicated in monogenic CACD in the literature it reviewed: PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, and TTLL5. (camargo2022newinsightson pages 1-2)

2.2 Risk factors

Genetic risk factors - PRPH2 is highlighted as the main gene in most published CACD studies. (camargo2022newinsightson pages 6-8, camargo2022newinsightson pages 8-9) - CACD has been associated with variants in genes involved in photoreceptor structure (PRPH2), phototransduction recovery/Ca2+ feedback (GUCA1A, GUCY2D), and other retinal dystrophy genes (CDHR1, ABCA4, TTLL5) with variable strength of evidence depending on the gene/variant. (camargo2022newinsightson pages 1-2, camargo2022newinsightson pages 8-9)

Environmental risk factors / lifestyle risk factors No CACD-specific environmental or lifestyle risk factors were identified in the retrieved evidence set for this run.

2.3 Protective factors and gene–environment interactions

No CACD-specific protective factors or gene–environment interactions were identified in the retrieved evidence set for this run.

3. Phenotypes

3.1 Core clinical phenotype and staging

A disease-staging framework described in a 2022 systematic review includes four clinical stages: - Stage 1: subtle parafoveal RPE changes - Stage 2: oval/round mildly atrophic hypopigmented area with a “speckled” fundus autofluorescence (FAF) pattern - Stage 3: well-demarcated RPE atrophy patches outside the fovea - Stage 4: foveal involvement with markedly decreased visual acuity, commonly <20/200. (camargo2022newinsightson pages 1-2)

3.2 Frequency and quantitative phenotype statistics (recent cohorts)

In the largest recent multicenter PRPH2 cohort (241 patients, 168 families; Investigative Ophthalmology & Visual Science; May 2024; https://doi.org/10.1167/iovs.65.5.22): - Median age at symptom onset: 40 years (range 4–78). (jeffery2024retinaldystrophiesassociated pages 1-2) - FAF phenotype distribution included CACD: 28% classified as CACD. (jeffery2024retinaldystrophiesassociated pages 1-2) - Median visual acuity: 0.18 logMAR in each eye (IQRs provided in the abstract). (jeffery2024retinaldystrophiesassociated pages 1-2) - ERG: significantly reduced amplitudes across components and delayed peak times in light-adapted 30-Hz flicker and single-flash b-wave (P < 0.001). (jeffery2024retinaldystrophiesassociated pages 1-2)

3.3 Representative symptoms/signs (suggested HPO terms)

Evidence in this run supports the following clinical manifestations and corresponding suggested HPO terms (examples): - Progressive central vision loss / reduced visual acuity → HP:0007663 (Reduced visual acuity) (stage 4 often <20/200). (camargo2022newinsightson pages 1-2) - Macular atrophy / chorioretinal atrophy → HP:0000608 (Macular degeneration) / HP:0000556 (Chorioretinal atrophy) (phenotype described as central macular RPE/choriocapillaris atrophy). (camargo2022newinsightson pages 1-2, corradetti2024retinalimagingfindings pages 13-15) - Central scotoma (reported in a 2023 CACD case report abstract, but not deeply extracted here) → HP:0000603 (Central scotoma) (limited evidence in retrieved set; primarily case-report level). (paper retrieved but not evidence-extracted)

3.4 Quality of life impact

No CACD-specific quality-of-life instrument results (e.g., NEI VFQ-25, EQ-5D) were found in the retrieved evidence set for this run; however, the disease is described as “usually profound visual loss” at later stages, which is expected to substantially impact daily functioning. (camargo2022newinsightson pages 1-2)

4. Genetic / Molecular Information

4.1 Causal genes (with disease context)

A 2022 systematic review of CACD-causing genes reports that variants in PRPH2, GUCA1A, GUCY2D, CDHR1, ABCA4, TTLL5 have been implicated in monogenic CACD in the literature, with functional connections to photoreceptors. (camargo2022newinsightson pages 1-2, camargo2022newinsightson pages 8-9)

Functional grouping (from review synthesis): - Photoreceptor outer segment structure: PRPH2 (peripherin-2) required for outer segment disc morphogenesis and rim curvature. (camargo2022newinsightson pages 8-9) - Phototransduction recovery / Ca2+ feedback: GUCY2D encodes retinal guanylyl cyclase; GUCA1A encodes GCAP1 regulating GUCY2D in Ca2+-dependent feedback. (camargo2022newinsightson pages 8-9)

4.2 Pathogenic variants (examples explicitly supported here)

PRPH2 - p.Arg195Leu (R195L): used to generate a CRISPR knock-in model that “recapitulate[s] human central areolar choroidal dystrophy.” (Ruiz-Pastor et al., 2023; published Nov 2023; https://doi.org/10.1038/s41419-023-06243-8). (ruizpastor2023prph2knockinmice pages 1-2, ruizpastor2023prph2knockinmice pages 3-5) - c.828+3A>T (splice-site): associated with a more severe CACD-like phenotype in a longitudinal PRPH2 cohort, presenting with diffuse RPE atrophy consistent with CACD and progressing to extensive atrophy. (Seddon et al., 2024; IOVS; published Dec 2024; https://doi.org/10.1167/iovs.65.14.31). (seddon2024clinicalandimaging pages 1-2)

GUCY2D - p.Val933Ala / V933A: cited as a CACD-causative variant in summaries and systematic review context. (camargo2022newinsightson pages 6-8, abeshi2017genetictestingfor pages 3-3)

GUCA1A - Variants including p.Arg120Leu are discussed as disrupting photoreceptors/RPE in mechanistic work and are included in CACD gene lists in the systematic review. (camargo2022newinsightson pages 8-9, chen2017guca1amutationcauses pages 9-10)

Important limitation: This run did not retrieve ClinVar/gnomAD allele frequencies or ACMG per-variant classifications directly; variant classification statements here are limited to what the retrieved papers explicitly state.

4.3 Genotype–phenotype correlations

A 2024 longitudinal cohort found PRPH2 c.828+3A>T associated with more advanced disease compatible with CACD and worse visual outcomes versus PRPH2 L185P associated with pattern dystrophy phenotypes and better visual acuity over follow-up. (seddon2024clinicalandimaging pages 1-2)

In a large 2024 PRPH2 cohort, the CACD phenotype was associated with missense variants, and specific codons were highlighted as repeatedly reported for CACD (Arg142, Arg172, Arg195, Ile196, Arg203, Gly208). (jeffery2024retinaldystrophiesassociated pages 2-3)

5. Environmental Information

No CACD-specific environmental, lifestyle, or infectious contributors were identified in the retrieved evidence set for this run.

6. Mechanism / Pathophysiology

6.1 Causal chain (gene to phenotype)

Photoreceptor-first with secondary RPE/choriocapillaris involvement (proposed): - CACD is often recognized clinically by RPE and choriocapillaris defects, but mechanistic discussion notes that genes reported to cause CACD are photoreceptor-expressed, supporting a model where primary photoreceptor dysfunction can precede and drive secondary RPE/choriocapillaris degeneration. (chen2017guca1amutationcauses pages 9-10) - In imaging-based characterization, CACD is described as “well-demarcated central macular atrophy of the RPE and choriocapillaris,” consistent with downstream tissue loss. (corradetti2024retinalimagingfindings pages 13-15)

6.2 Molecular pathways/processes implicated (suggested GO terms)

Evidence-supported processes include: - Photoreceptor outer segment organization/morphogenesis (PRPH2 structural role) → GO:0031644 (regulation of neurological system process) is too broad; more appropriate suggested terms include GO:0031638 (z-disc?) not correct. Given the evidence, suggested (curation) terms: GO:0030154 (cell differentiation) not right. Due to absence of explicit GO terms in evidence, provide conceptual mapping only: outer segment disc morphogenesis/organization (photoreceptor outer segment structure). (camargo2022newinsightson pages 8-9, ruizpastor2023prph2knockinmice pages 3-5) - Phototransduction recovery and cGMP/Ca2+ homeostasis (GUCY2D regulated by GUCA1A) → suggested conceptual GO: phototransduction, cGMP biosynthetic process, calcium ion homeostasis. (camargo2022newinsightson pages 8-9) - Neuroinflammation and glial activation (mouse model) → suggested conceptual GO: microglial cell activation, gliosis, synaptic remodeling. (ruizpastor2023prph2knockinmice pages 14-16, ruizpastor2023prph2knockinmice pages 8-11)

6.3 Cell types involved (suggested CL terms)

6.4 Key 2023 mechanistic advance: PRPH2 knock-in CACD model

Ruiz-Pastor et al. (Cell Death & Disease; Nov 2023; https://doi.org/10.1038/s41419-023-06243-8) created Prph2 p.Arg195Leu knock-in mice and reported: - ERG amplitudes reduced early in homozygotes (from 1 month) and later in heterozygotes (from 6 months). (ruizpastor2023prph2knockinmice pages 1-2) - Declining visual acuity from 3 months (homozygotes) and 6 months (heterozygotes). (ruizpastor2023prph2knockinmice pages 1-2) - Outer segment structural disruption plus synaptic remodeling and microglial activation / gliosis. (ruizpastor2023prph2knockinmice pages 14-16, ruizpastor2023prph2knockinmice pages 8-11)

Direct abstract quote (model utility): the mice “show a pattern of retinal degeneration similar to that described in human patients with central areolar choroidal dystrophy and appear to be good models to study the mechanisms involved…” (ruizpastor2023prph2knockinmice pages 1-2)

6.5 Molecular profiling / multi-omics

No CACD-specific transcriptomic/proteomic/metabolomic or single-cell/spatial studies were identified in the retrieved evidence set for this run.

7. Anatomical Structures Affected

7.1 Organ/tissue localization (suggested UBERON terms)

7.2 Laterality

CACD is typically bilateral and symmetric by definition in the disease overview, though unilateral presentations have been reported (not evidence-extracted here). (camargo2022newinsightson pages 1-2)

8. Temporal Development

8.1 Onset

Typical onset is described as between the third and fifth decades in a 2022 systematic review. (camargo2022newinsightson pages 1-2)

In PRPH2-associated retinopathy cohorts (which include CACD as a major phenotype), median symptom onset across PRPH2 disease was 40 years (range 4–78). (jeffery2024retinaldystrophiesassociated pages 1-2)

8.2 Progression

The longitudinal PRPH2 cohort demonstrates multi-decade progression patterns: - PRPH2 L185P: adult-onset vitelliform/butterfly pattern dystrophy in 40s–50s evolving to central macular atrophy approximately 20 years later. (seddon2024clinicalandimaging pages 1-2) - PRPH2 c.828+3A>T: presentation in the fifth decade with CACD-like diffuse RPE atrophy progressing to extensive atrophy in later decades. (seddon2024clinicalandimaging pages 1-2)

9. Inheritance and Population

9.1 Inheritance pattern

CACD is described as mostly autosomal dominant, with rare autosomal recessive inheritance also reported. (camargo2022newinsightson pages 1-2, abeshi2017genetictestingfor pages 3-3)

9.2 Epidemiology

A genetic-testing-focused summary reported an “overall prevalence” estimate of 1–9 per 100,000; this estimate is older and should be validated against up-to-date registry data. (abeshi2017genetictestingfor pages 3-3)

No robust CACD incidence estimates were identified in the retrieved evidence set.

10. Diagnostics

10.1 Clinical and imaging diagnostics (2024 state-of-the-art)

A 2024 IRD imaging review states CACD shows “well-demarcated central macular atrophy of the RPE and choriocapillaris,” and that: - FAF helps identify accumulated lipofuscin and areas of RPE hypopigmentation. - Spectral-domain OCT can demonstrate “complete loss of all outer retinal layers in the atrophic region.” - OCTA can show “patchy choriocapillaris flow deficits not only within the area of RPE atrophy but also in surrounding regions.” (Corradetti et al., Journal of Clinical Medicine; Apr 2024; https://doi.org/10.3390/jcm13072079). (corradetti2024retinalimagingfindings pages 13-15)

10.2 Electrophysiology

The 2024 PRPH2 cohort reported full-field ERG abnormalities (reduced amplitudes and delayed peak times), supporting the role of ERG for characterization and differential diagnosis. (jeffery2024retinaldystrophiesassociated pages 1-2)

10.3 Genetic testing

Genetic testing is emphasized as clinically useful for confirming diagnosis and enabling counseling and research/trial access; a summary states CACD diagnosis may rely on ophthalmologic examination plus imaging and electrophysiology, and that genetic testing supports differential diagnosis and couple risk assessment. (abeshi2017genetictestingfor pages 3-3)

Panel limitations / diagnostic yield: In an IRD cohort context, CACD had low molecular diagnostic rate (example cited: 35% (7/20)). (camargo2022newinsightson pages 6-8)

10.4 Differential diagnosis

CACD can be confused with geographic atrophy due to age-related macular degeneration (AMD). A 2024 longitudinal PRPH2 cohort notes some individuals were initially misdiagnosed as geographic atrophy secondary to AMD, highlighting the value of multimodal imaging and genetic testing. (seddon2024clinicalandimaging pages 9-10, seddon2024clinicalandimaging pages 1-2)

11. Outcome / Prognosis

11.1 Visual outcomes

The 2022 systematic review notes that late-stage CACD (foveal involvement) often results in severe acuity reduction (commonly <20/200). (camargo2022newinsightson pages 1-2)

In PRPH2-associated disease (where CACD is common), median VA was 0.18 logMAR in a 241-patient cohort, but this includes multiple PRPH2 phenotypes; CACD-specific VA distributions were not extracted from the available abstract evidence. (jeffery2024retinaldystrophiesassociated pages 1-2)

11.2 Prognostic factors

Variant-specific prognosis is suggested in PRPH2 cohorts: c.828+3A>T is associated with more severe CACD-like disease and worse VA than L185P, with different trajectories over decades. (seddon2024clinicalandimaging pages 1-2)

12. Treatment

12.1 Current standard of care

No disease-modifying treatment preventing CACD progression is established in the retrieved evidence set; management is currently supportive and focused on diagnosis, monitoring, and counseling. (camargo2022newinsightson pages 1-2)

12.2 Advanced therapeutics and experimental directions (2023–2024 priority)

A 2024 PRPH2 workshop report (TVST; Oct 2024; https://doi.org/10.1167/tvst.13.10.16) highlights therapeutic directions for PRPH2-associated IRDs, including gene-specific and gene-agnostic strategies and the need for larger natural-history studies. (ayyagari2024currentandfuture pages 1-2)

Direct abstract quote (expert consensus framing): the workshop highlighted “possible therapeutic approaches…including gene-specific therapies and gene-agnostic approaches.” (ayyagari2024currentandfuture pages 1-2)

The workshop report details gene-specific approaches including gene augmentation, allele-specific knockdown (ASO/RNase H concepts), knockdown-and-replace strategies, and genome editing/prime editing as potential routes depending on PRPH2 mechanism (loss-of-function vs gain-of-function). (ayyagari2024currentandfuture pages 6-8)

A 2023 review of genetic treatments for autosomal dominant IRDs emphasizes that gain-of-function variants “will require gene or RNA editing/knockdown to suppress the mutant allele,” while dominant-negative mechanisms may be more amenable to augmentation. (British Journal of Ophthalmology; Aug 2023; https://doi.org/10.1136/bjo-2022-321903). (varela2023genetictreatmentfor pages 13-19)

12.3 Clinical trials relevant to CACD genes / IRD endpoints

  • NCT03920007 (ATSN-101; Atsena Therapeutics; Phase 1/2; started 2019) targets biallelic GUCY2D Leber congenital amaurosis (not CACD), but is relevant as a proof-of-concept for retinal gene therapy targeting a CACD-associated gene. Primary endpoint: adverse events; secondary endpoints include BCVA and full-field stimulus testing sensitivity. (NCT03920007 chunk 1)
  • NCT07265895 (IRCCS San Raffaele; observational; NOT_YET_RECRUITING; start 2026-01-01) is a natural-history/genotype–phenotype study for IRDs (including PRPH2) and explicitly lists imaging/functional endpoints that could be used in CACD: BCVA, microperimetry sensitivity, total macular volume, central subfield thickness, preserved ellipsoid zone area, decreased autofluorescence area, etc. (NCT07265895 chunk 1)

12.4 Suggested MAXO terms (treatments/actions)

Evidence-supported interventions and actions (as ontology suggestions) include: - Genetic testing / molecular diagnosis → MAXO:0000127 (genetic testing) (conceptual; exact MAXO ID should be verified) - Optical coherence tomography → MAXO (diagnostic imaging procedure) (verify exact MAXO term) - Fundus autofluorescence imaging → MAXO (retinal imaging) (verify) - Low-vision rehabilitation/support → MAXO (vision rehabilitation) (verify) - Gene therapy / gene augmentation / genome editing / antisense therapy → MAXO (gene therapy) / MAXO (genome editing therapy) / MAXO (antisense oligonucleotide therapy) (verify)

13. Prevention

No primary prevention strategies specific to CACD onset were identified in the retrieved evidence set. Secondary/tertiary prevention is currently centered on early diagnosis (genetic testing + multimodal imaging), monitoring for complications such as macular neovascularization described in PRPH2 longitudinal follow-up, and supportive interventions for visual disability. (seddon2024clinicalandimaging pages 9-10, seddon2024clinicalandimaging pages 1-2)

14. Other Species / Natural Disease

No naturally occurring CACD in non-human species was identified in the retrieved evidence set for this run.

15. Model Organisms

A 2023 CRISPR/Cas9 Prph2 p.Arg195Leu knock-in mouse model recapitulates key CACD features and is positioned as a platform for mechanistic studies and therapeutic testing. (ruizpastor2023prph2knockinmice pages 1-2, ruizpastor2023prph2knockinmice pages 8-11)

Evidence Gaps / Not Available in Retrieved Corpus (explicit)

  • MONDO/Orphanet/ICD/MeSH identifiers for CACD were not retrievable via the available tool outputs in this run.
  • CACD-specific, instrumented quality-of-life outcomes (NEI VFQ-25/EQ-5D/PROMIS) were not found in the retrieved evidence set.
  • Variant allele frequencies (gnomAD) and formal ClinVar/ClinGen assertions were not directly retrieved.
  • CACD-specific omics (bulk RNA-seq, single-cell, spatial transcriptomics, proteomics, metabolomics) were not identified in the retrieved evidence set.

References

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  15. (ruizpastor2023prph2knockinmice pages 3-5): María José Ruiz-Pastor, Xavier Sánchez-Sáez, Oksana Kutsyr, Henar Albertos-Arranz, Carla Sánchez-Castillo, Isabel Ortuño-Lizarán, Natalia Martínez-Gil, Lorena Vidal-Gil, Lucía Méndez, Manuel Sánchez-Martín, Victoria Maneu, Pedro Lax, and Nicolás Cuenca. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation. Cell Death & Disease, Nov 2023. URL: https://doi.org/10.1038/s41419-023-06243-8, doi:10.1038/s41419-023-06243-8. This article has 7 citations and is from a peer-reviewed journal.

  16. (ruizpastor2023prph2knockinmice pages 14-16): María José Ruiz-Pastor, Xavier Sánchez-Sáez, Oksana Kutsyr, Henar Albertos-Arranz, Carla Sánchez-Castillo, Isabel Ortuño-Lizarán, Natalia Martínez-Gil, Lorena Vidal-Gil, Lucía Méndez, Manuel Sánchez-Martín, Victoria Maneu, Pedro Lax, and Nicolás Cuenca. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation. Cell Death & Disease, Nov 2023. URL: https://doi.org/10.1038/s41419-023-06243-8, doi:10.1038/s41419-023-06243-8. This article has 7 citations and is from a peer-reviewed journal.

  17. (ruizpastor2023prph2knockinmice pages 8-11): María José Ruiz-Pastor, Xavier Sánchez-Sáez, Oksana Kutsyr, Henar Albertos-Arranz, Carla Sánchez-Castillo, Isabel Ortuño-Lizarán, Natalia Martínez-Gil, Lorena Vidal-Gil, Lucía Méndez, Manuel Sánchez-Martín, Victoria Maneu, Pedro Lax, and Nicolás Cuenca. Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation. Cell Death & Disease, Nov 2023. URL: https://doi.org/10.1038/s41419-023-06243-8, doi:10.1038/s41419-023-06243-8. This article has 7 citations and is from a peer-reviewed journal.

  18. (ayyagari2024currentandfuture pages 1-2): Radha Ayyagari, Shyamanga Borooah, Todd Durham, Claire Gelfman, and Angela Bowman. Current and future directions in developing effective treatments for prph2-associated retinal diseases: a workshop report. Translational Vision Science & Technology, 13:16, Oct 2024. URL: https://doi.org/10.1167/tvst.13.10.16, doi:10.1167/tvst.13.10.16. This article has 3 citations and is from a peer-reviewed journal.

  19. (ayyagari2024currentandfuture pages 6-8): Radha Ayyagari, Shyamanga Borooah, Todd Durham, Claire Gelfman, and Angela Bowman. Current and future directions in developing effective treatments for prph2-associated retinal diseases: a workshop report. Translational Vision Science & Technology, 13:16, Oct 2024. URL: https://doi.org/10.1167/tvst.13.10.16, doi:10.1167/tvst.13.10.16. This article has 3 citations and is from a peer-reviewed journal.

  20. (varela2023genetictreatmentfor pages 13-19): Malena Daich Varela, Anastasios Georgiadis, and Michel Michaelides. Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. British Journal of Ophthalmology, 107:1223-1230, Aug 2023. URL: https://doi.org/10.1136/bjo-2022-321903, doi:10.1136/bjo-2022-321903. This article has 32 citations and is from a highest quality peer-reviewed journal.

  21. (NCT03920007 chunk 1): Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D. Atsena Therapeutics Inc.. 2019. ClinicalTrials.gov Identifier: NCT03920007

  22. (NCT07265895 chunk 1): Maurizio Battaglia Parodi. Inherited Retinal Diseases: Natural History and Genotype-Phenotype Correlations. IRCCS San Raffaele. 2026. ClinicalTrials.gov Identifier: NCT07265895

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