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PubMed This is a summary of 64 peer-reviewed journal articles Updated
Ophthalmology

Understanding Central Areolar Choroidal Dystrophy (CACD)

At a Glance

Central Areolar Choroidal Dystrophy (CACD) is a slowly progressive, inherited eye condition that affects the macula, leading to a gradual loss of central vision. While it impacts tasks like reading and driving, peripheral vision is typically spared, preventing total blindness.

Finding out you have a rare, inherited condition like Central Areolar Choroidal Dystrophy (CACD) can feel like the world is shifting beneath your feet. It is completely normal to feel overwhelmed, anxious, or uncertain about the future. While CACD is a progressive condition that affects your central vision, understanding how it works and what to expect can help you move from a place of panic to a place of informed empowerment.

Defining CACD

At its simplest, CACD is a genetic condition that causes the tissues in the center of your retina (the macula) to slowly thin and wear away [1][2]. This area, called the macula, is responsible for your sharpest “straight-ahead” vision, which you use for reading, driving, and recognizing faces [3][4].

The condition is often linked to mutations in specific genes, most commonly the PRPH2 gene [5][6]. Because it is inherited, it may run in families, though the way it appears can vary significantly even between family members [7][8].

Understanding the Eye’s Layers

To understand CACD, it helps to know about two vital structures in the back of your eye:

  • Retinal Pigment Epithelium (RPE): Think of this as the “support crew” for your light-sensing cells. The RPE provides nutrients and hauls away waste [9][3]. In CACD, this layer begins to break down, which eventually affects your vision.
  • Choriocapillaris (kor-ee-oh-cap-ill-AIR-iss): This is a dense network of tiny blood vessels just behind the RPE. Its job is to provide oxygen and nourishment to the outer retina. In CACD, these vessels undergo rarefaction—a medical term meaning they become thinner and less dense [10][5].

As these layers change, the light-sensing cells in the macula no longer get the support they need to function correctly.

What to Know to Stop the Panic

While the diagnosis is serious, there are several facts that can help orient you:

  1. Peripheral Vision is Spared: CACD primarily affects the center of your vision. Your peripheral (side) vision typically remains intact, meaning you will likely maintain the ability to see your surroundings and move around independently [3][11].
  2. Slow Progression: This is not a condition that causes vision loss overnight. It generally progresses slowly over many years, giving you ample time to adapt and work with specialists [8][4].
  3. Foveal Sparing: In some people, the very center of the macula (the fovea) remains healthy for a long time, even while the area around it changes. This is called foveal sparing, and it can help preserve clear vision for a longer period [11][12].
  4. Expert Monitoring: Advanced imaging like OCT (Optical Coherence Tomography) allows your doctors to track the health of your retina with incredible precision [10][1]. This means your care team can monitor changes and provide support exactly when you need it.

The Path Forward

Although there is currently no cure for CACD, you are not alone, and the medical community is not standing still [3]. Research is actively focused on understanding the genetic triggers of the disease and developing future therapies [5][13].

We have organized this guide to help you take the next steps:

01

The Journey of Your Vision: Symptoms and Progression

Learn about Central Areolar Choroidal Dystrophy (CACD) symptoms and progression. Understand early signs, central vision loss, and how it differs from AMD.

02

The Blueprint of Vision: Biology and Genetics

Learn about the genetics of Central Areolar Choroidal Dystrophy (CACD). Understand how PRPH2 gene mutations and inheritance patterns affect your vision.

03

Getting it Right: Diagnosis and Distinguishing CACD from AMD

Learn how doctors diagnose Central Areolar Choroidal Dystrophy (CACD) and distinguish it from AMD using OCT imaging, retinal scans, and genetic testing.

04

Navigating Your Future: Management and Research

Learn how to manage Central Areolar Choroidal Dystrophy (CACD). Discover low-vision rehab techniques, lifestyle tips, and future gene therapy research.

05

Building Your Care Team and Preparing for Appointments

Learn how to build a care team for Central Areolar Choroidal Dystrophy (CACD). Understand how to find IRD specialists and prepare for your first appointment.

Common questions in this guide

What is Central Areolar Choroidal Dystrophy (CACD)?
CACD is a genetic eye condition that causes the tissues in the center of your retina, known as the macula, to slowly thin and wear away. This primarily affects your sharp, straight-ahead vision over time.
Will CACD make me completely blind?
No, CACD generally spares your peripheral or side vision. While it affects the central vision needed for reading and recognizing faces, most people maintain the ability to see their surroundings and move around independently.
How fast does CACD progress?
CACD typically progresses slowly over many years, rather than causing overnight vision loss. This slow progression gives you time to adapt and work with low-vision specialists to maximize your remaining eyesight.
What is foveal sparing in CACD?
Foveal sparing happens when the very center of the macula, called the fovea, remains healthy even while surrounding tissues break down. This can help preserve your clear, central vision for a much longer time.
Is Central Areolar Choroidal Dystrophy inherited?
Yes, CACD is a genetic condition that often runs in families. It is most commonly linked to inherited mutations in specific genes, such as the PRPH2 gene, though its severity can vary among family members.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Which specific gene mutation was found in my genetic testing, and what does it tell us about how my vision might change?
  2. 2.Based on my current imaging, do I show any 'foveal sparing,' and how does that affect my long-term outlook?
  3. 3.What stage of the disease am I currently in, and what specific changes should I look for that might indicate progression?
  4. 4.Can you refer me to a low-vision specialist who can help me maximize my current vision?
  5. 5.Are there any upcoming natural history studies or registries you recommend I join to stay connected with research?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (13)
  1. 1

    Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA.

    Albertos-Arranz H, Sánchez-Sáez X, Martínez-Gil N, et al.

    Diagnostics (Basel, Switzerland) 2021; (11(5)) doi:10.3390/diagnostics11050777.

    PMID: 33925984
  2. 2

    Electrophysiological Evaluation of Macular Dystrophies.

    Chiang TK, Yu M

    Journal of clinical medicine 2023; (12(4)) doi:10.3390/jcm12041430.

    PMID: 36835965
  3. 3

    New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy-Beyond Classical Gene Candidates.

    Kazmierczak de Camargo JP, Prezia GNB, Shiokawa N, et al.

    Frontiers in genetics 2022; (13()):886461 doi:10.3389/fgene.2022.886461.

    PMID: 35656327
  4. 4

    A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

    Charbel Issa P, Gliem M, Yusuf IH, et al.

    Investigative ophthalmology & visual science 2019; (60(10)):3388-3397 doi:10.1167/iovs.18-26415.

    PMID: 31387115
  5. 5

    Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.

    Ruiz-Pastor MJ, Sánchez-Sáez X, Kutsyr O, et al.

    Cell death & disease 2023; (14(11)):711 doi:10.1038/s41419-023-06243-8.

    PMID: 37914688
  6. 6

    PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

    Coco-Martin RM, Sanchez-Tocino HT, Desco C, et al.

    Genes 2020; (11(7)) doi:10.3390/genes11070773.

    PMID: 32660024
  7. 7

    Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.

    Seddon JM, De D, Grunenkovaite L, Ferrara D

    Investigative ophthalmology & visual science 2024; (65(14)):31 doi:10.1167/iovs.65.14.31.

    PMID: 39693084
  8. 8

    Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

    Heath Jeffery RC, Thompson JA, Lo J, et al.

    Investigative ophthalmology & visual science 2024; (65(5)):22 doi:10.1167/iovs.65.5.22.

    PMID: 38743414
  9. 9

    Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.

    Duncker T, Tsang SH, Woods RL, et al.

    Investigative ophthalmology & visual science 2015; (56(5)):3159-70 doi:10.1167/iovs.14-16343.

    PMID: 26024099
  10. 10

    MULTIMODAL RETINAL IMAGING REVEALS NEW PATHOGENIC INSIGHTS IN CENTRAL AREOLAR CHOROIDAL DYSTROPHY: A CASE SERIES.

    Romano F, Cozzi E, Boon CJF, et al.

    Retinal cases & brief reports 2024; (18(1)):32-38 doi:10.1097/ICB.0000000000001325.

    PMID: 36731070
  11. 11

    Foveal Sparing in Central Retinal Dystrophies.

    Bax NM, Valkenburg D, Lambertus S, et al.

    Investigative ophthalmology & visual science 2019; (60(10)):3456-3467 doi:10.1167/iovs.18-26533.

    PMID: 31398255
  12. 12

    CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.

    Takács Á, Varsányi B, Barboni M, et al.

    Genes 2026; (17(1)) doi:10.3390/genes17010102.

    PMID: 41595520
  13. 13

    Structure-function correlation of retinal photoreceptors in PRPH2-associated central areolar choroidal dystrophy patients assessed by high-resolution scanning laser imaging and microperimetry.

    Mulders T, van der Zanden L, Klevering BJ, et al.

    Acta ophthalmologica 2024; (102(5)):521-528 doi:10.1111/aos.15816.

    PMID: 38041245

This page provides an educational overview of Central Areolar Choroidal Dystrophy (CACD). It is not a substitute for professional medical advice, diagnosis, or regular monitoring by your ophthalmologist or eye care specialist.

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