Rare eye diseases are capable of causing significant vision issues and blindness, typically as the result of gene mutations that were present at birth but not present initially.

These disorders are characterized by inflammation of muscles and soft tissues surrounding the eyes. Their symptoms range from mild to severe; patients can suffer from blurry or tunnel vision and in severe cases they become blind.

Nevi

Nevi (plural: nevi) are sharply circumscribed, permanent lesions of the skin and mucosa that often refer to as birthmarks or beauty marks. Though usually harmless, 25% of malignant melanomas develop from preexisting nevi. Histologically defined as nests of melanocytes, nevi can be distinguished from benign pigmented lesions known as lentigines; unfortunately there are currently no therapies that can slow their progress.

On May 25, AEVR hosted a Congressional Briefing that addressed lesser-known retinal diseases that affect fewer individuals but still result in serious vision loss or blindness for many people. Ben Shaberman, Vice President of Science Communications for Foundation Fighting Blindness and an AEVR Member organization, provided insight into research developments made for rare retinal disease research.

Even though rare diseases are less prevalent, they can still be difficult to manage for patients. Patients often face challenges with diagnosis, accessing rehabilitation services and limited health infrastructure as well as participating in clinical trials of new treatments. Therefore it is imperative that registries dedicated to these rare conditions be established – this will serve both researchers and patient care more efficiently.

Registers also present an outstanding opportunity for collaboration among researchers around the globe. By sharing data, researchers can work collaboratively to understand genetic etiologies of diseases and find more effective treatments – thus benefitting all parties involved – from patients to pharmaceutical and biotechnology industries alike. Through collaboration comes faster drug development process which ultimately improves patients’ quality of life.

Bietti’s Crystalline Dystrophy

Bietti’s Crystalline Dystrophy (BCD) is an autosomal recessive eye disease characterized by yellow-white crystal lipid deposits in the retina and cornea, degeneration of retinal pigment epithelium cells and choroidal vasculature sclerosis. Over time this leads to reduced visual acuity, night blindness or peripheral vision loss as well as diminished color vision – with no effective treatments currently available to address its symptoms.

Individuals living with Bietti’s Dystrophy usually notice a decrease in their vision during their teens or twenties, manifesting as difficulties seeing in dim lighting (night blindness) and/or losing areas of peripheral (side) vision, usually peripheral. Over time, however, central vision diminishes further until eventually legal blindness sets in for those affected by Bietti’s dystrophy.

BCD can be caused by mutations to the CYP4V2 gene, which encodes for polyunsaturated fatty acid hydroxylase protein found in retinal pigment epithelium cells and which contributes to producing retinol as an important antioxidant for eye health.

BCD symptoms and signs are similar to other progressive retinal degeneration conditions like retinitis pigmentosa; thus leading to its underdiagnosis by physicians; Mataftsi et al reported that only 1/6 BCD patients received accurate initial diagnoses from healthcare providers. Underdiagnosis of BCD may occur because its associated crystalline deposits don’t always show up on fundus photographs and electroretinograms, with symptoms often differing between diffuse and localized involvement of disease. Spectrum domain optical coherence tomography angiography can help differentiate BCD from other retinal degenerative disorders by providing visual access to inner retinal structures including RPE and choriocapillaris as well as information regarding macular neovascularization in these conditions.

Anopthalmia

Anophthalmia is an extremely rare eye disease characterized by one or both eyes being completely absent from their orbits, either congenitally or acquired later on due to injury. Although most often linked with chromosomal abnormalities, anophthalmia can also result from environmental conditions like drugs or chemicals exposure during gestation.

Rare eye disease doesn’t have an official cure, but can be managed through various interventions and therapies. Such treatments can help individuals adjust to their condition while living healthy lifestyles; for instance, ocular prostheses can be fitted as replacement eyes to increase quality of life – these artificial eyes are continuously evolving into more realistic and comfortable models.

Psychosocial interventions may also prove invaluable for individuals living with blindness. Counseling sessions, peer support groups and social activities are among the many strategies available to them to reduce emotional and psychological stress associated with this condition and boost self-esteem; such strategies also allow families and individuals to cope better with vision loss.

Research is key in discovering treatment for rare eye diseases. By creating registries, researchers can track the natural course of these disorders and understand what may have caused them. Furthermore, creating these registries allows more effective medications tailored specifically to treat symptoms to be developed more easily.

The AEVR Foundation hosted a congressional briefing to bring attention to rare eye disease research. Ben Shaberman, Vice President of Science Communications for Foundation Fighting Blindness, discussed advances being made with rare retinal diseases as well as discussing Thyroid Eye Disease which affects just 200,000 people each year.

Micropthalmia

This rare genetic condition manifests itself through abnormalities to both eyes and skin, including small or missing eyes (anophthalmia), abnormal formation of iris, cornea and lens structures as well as alteration to their development, as well as changes to sclera (the protective outer covering) development.

Some cases of anophthalmia are identified during gestation with ultrasound imaging, genetic testing or computed tomography X-ray imaging technology; other instances may be identified after birth during physical exams with physicians. Early identification and comprehensive care for people living with anophthalmia is crucial.

Ocularists specialize in eye exams designed to detect this disorder. Specifically, they’ll inspect the skin around the eyes for signs such as “keyhole” pupils or small eyes that indicate this illness. A genetic test can confirm its presence or absence while genetic counseling can provide families with guidance on inheritance patterns and risk assessment for other family members.

Anophthalmia may result from genetic mutations or chromosomal abnormalities. Additionally, environmental exposure during gestation (e.g. drugs or chemicals used during birthing process) or infection may also play a part in its occurrence. Either way, having this disorder can result in poor cosmetic appearance, decreased quality of life and visual issues including squinting or difficulty moving.

AEVR recently hosted a Congressional Briefing that explored less-common eye diseases that, while they affect fewer individuals than conditions such as Glaucoma or Age-Related Macular Degeneration (AMD), still lead to severe vision loss or blindness for significant numbers of patients. Ben Shaberman, Vice President of Science Communications for Foundation Fighting Blindness discussed progress being made towards finding new treatments for retinal disorders like Retinitis Pigmentosa and Thyroid Eye Disease.

Glaucoma

Glaucoma is a pattern of damage to the optic nerve (a bundle of over one million nerve fibers that connects your eye to your brain) caused by abnormally high eye pressure. This abnormally high pressure may develop over time or suddenly; usually due to an inflow and outflow of aqueous fluid not reaching its drainage angle; open-angle or narrow-angle glaucoma may ensue depending on whether this fluid reaches it; otherwise known as narrow-angle glaucoma respectively. While these forms typically remain undetected or treated, they can eventually result in significant vision loss or blindness if left undetected or undetected/treated accordingly.

Glaucoma may develop due to certain medical conditions or injuries, including cataracts, eye surgery or as a side effect of medications; others can develop from being born with it and can affect infants or children as early as birth – this form is known as pediatric glaucoma. A rare form called angle-closure glaucoma arises when part of an iris blocks its natural drainage channel resulting in sudden rapid increase of eye pressure that requires emergency treatment to avoid permanent vision loss.

Thyroid Eye Disease (TED), another rare eye disease, is an immune system condition resulting in inflammation to extraocular muscle, connective tissue and fatty tissues. This leads to proptosis (the appearance of bulging eyes). Thyroid Eye Disease is heritable from one gene on the X chromosome; male carriers of this mutation experience the most severe clinical manifestations; while female carriers often show milder manifestations.