Living with Retinal degeneration-nanophthalmos-glaucoma syndrome
A rare genetic eye condition with retina damage, very small eyes, and glaucoma, causing vision loss in adulthood.
Understanding Retinal degeneration-nanophthalmos-glaucoma syndrome
It includes slowly worsening damage to the retina, with night blindness and a narrowing field of vision. It also includes swelling-like changes in the center of the retina (cystic macular degeneration) and a type of glaucoma (angle closure). It has been described in seven members of one family. Onset is in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Visual impairment
- Abnormal retina pigment
- Very small eyeballs (nanophthalmos or microphthalmia)
- Nearsightedness (myopia)
- Optic nerve damage (optic atrophy)
- Abnormal electroretinogram (retina test)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent. It does not list a gene.
Also known as: mackay shek carr syndrome; mackay-shek-carr syndrome; retinal degeneration, nanophthalmos, glaucoma syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Retinal degeneration-nanophthalmos-glaucoma syndrome.
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