Rare eye conditions

We are not able to produce detailed medical information about all eye conditions. Instead, we have developed a directory of charities and support groups who are specialists in helping people who have specific conditions.

Please note: inclusion in this list is not intended as an endorsement and we are not responsible for the accessibility of these external sites.

• Albinism - Albinism Fellowship
• Alstrom Syndrome UK
• Bardet-Biedl Syndrome UK
• Batten disease – Batten Disease Family Association
• Behcets UK
• Birdshot Uveitis Society
• Blepharospasm – Dystonia UK
• Cerebral Visual Impairment (CVI) – The Cerebral Visual Impairment Society, CVI Scotland
• Dominant Optic Atrophy - Dominant Optic Atrophy: for patients - Gene Vision
• Ehlers-Danos Syndrome - Ehlers-Danos Support UK
• Enucleation - National Artificial Eye Service, Changing Faces, Microphthalmia, Anophthalmia and Coloboma Support (MACS), OcuMel UK, Childhood Eye Cancer Trust (CHECT)
• Epilepsy with Eyelid Myoclonia – Epilepsy Action
• Friedreich’s ataxia - Ataxia UK, NHS information on ataxia
• Hydroxychloroquine retinopathy – Macular Society
• Leber's Hereditary Optic Neuropathy (LHON) Society
• Marfan syndrome – Marfan Trust
• Microphthalmia, Anophthalmia and Coloboma Support (MACS)
• Morning Glory Syndrome – Genetic and Rare Diseases Information Centre
• Neurofibromatosis - Nerve Tumours UK
• Ocular melanoma - OcuMel UK
• Ocular mucous membrane pemphigoid (OMMP) – PEM Friends
• Ocular myasthenia – Myaware
• Posterior cortical atrophy (PCA) – Rare dementia support
• Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE)
• Punctate inner choroidopathy - Macular Society
• Refsum disease/syndrome - National Organisation for Rare Disorders (NORD), Retina UK
• Retinoblastoma - Childhood Eye Cancer Trust (CHECT)
• Retinopathy of prematurity (ROP) - Bliss (for babies born premature or sick), Royal College of Paedatrics and Child Health (RCPCH) Screening for Retinopathy of prematurity (PDF), Royal College of Ophthalmologists (RCOPHTH) Information for Parents and Guardian - Treatment of ROP (PDF)
• Sarcoidosis - SarcoidosisUK
• Sickle cell retinopathy – Sickle Cell Society
• Stickler Syndrome UK
• Toxoplasmosis of the eye - Tommy’s information on toxoplasmosis and pregnancy
• Vasculitis – Vasculitis UK

Please email [email protected] if you know of other organisations that should be added to this list.

Please note that it is our policy not to link to informal support groups.

The RNIB Helpline can help with all aspects of adapting to sight loss no matter what eye condition you have. If you need practical or emotional support, we can help. Call our Helpline on 0303 123 9999 or email [email protected].