Ophthalmology Case Reports

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +1 (629)348-3199

Short Communication - Ophthalmology Case Reports (2023) Volume 7, Issue 4

Unrevealing the Rare Diseases Affecting the Human Eyes

Luciano Branham *

Department of Ophthalmology, Oakland University William Beaumont School of Medicine, MI, USA.

*Corresponding Author:
Luciano Branham
Department of Ophthalmology,
Oakland University William Beaumont School of Medicine
E-mail: branluci@chop.edu

Received:12-Jul-2023, Manuscript No. OER-23-111828;Editor assigned: 14-Jul-2023, PreQC No. OER-23-111828(PQ);Reviewed:05-Jul-2023, QC No. OER-23-111828;Revised:27-Jul-2023, Manuscript No. OER-23-111828 (R); Published:03-Aug-2023, DOI: 10.35841/ aanr-5.4.165

Citation: Luciano Branham. Unrevealing the rare diseases affecting the human eyes. Ophthalmol Case Rep. 2023; 7(4):165

Visit for more related articles at Ophthalmology Case Reports


The human eye, a marvel of biological engineering, is not just a window to the world but also a reflection of our health. While common eye conditions like myopia or cataracts are widely recognized, there are several rare diseases that affect the eyes, often leading to severe visual impairment or even blindness. This article delves into some of these lesser-known conditions, shedding light on their causes, symptoms, and potential treatments.

Types of rare diseases

Stargardt disease: Stargardt disease is a form of inherited juvenile macular degeneration that causes progressive vision loss. Central vision loss, difficulty adapting to low light, and wavy vision. Mutations in the ABCA4 gene, which affects the retina's ability to process vitamin A. Currently, there's no cure, but research into gene therapy and stem cell treatments offers hope [1].

Aniridia: Aniridia means 'lack of iris'. It's a congenital condition where the iris is either partially or completely absent. Reduced visual acuity, increased sensitivity to light, and a higher risk of other eye conditions like cataracts and glaucoma. Mutations in the PAX6 gene. Sunglasses to manage light sensitivity, contact lenses to improve appearance, and regular monitoring for associated conditions. Behçet’s disease: A rare and chronic multisystem inflammatory disorder that often affects the eyes. Oral and genital ulcers, skin lesions, and uveitis (eye inflammation). Unknown, but believed to involve genetic and environmental factors. Immunosuppressive drugs, corticosteroids, and other medications to reduce inflammation [2].

Ocular albinism: A genetic disorder where the eyes lack melanin pigment. Nystagmus (involuntary eye movement), strabismus (misaligned eyes), and sensitivity to light. Mutations in the GPR143 gene. Visual aids, protective sunglasses, and sometimes surgery for strabismus [3].

Choroideremia: The inhibitory postsynaptic potential serves as a crucial mechanism for maintaining the balance and A rare inherited disorder leading to progressive loss of vision due to degeneration of the choroid and retina. Night blindness in early stages, followed by peripheral vision loss. Mutations in the CHM gene. No cure yet, but gene therapy trials are underway. Cone-rod dystrophy: A group of inherited conditions that affect the cone and rod cells of the retina. Decreased clarity of vision, colour blindness, and sensitivity to light. Genetic mutations in any of several different genes. Low vision aids and protective eyewear [4].

Neuromyelitis optica (Devic's disease): An autoimmune disorder that affects the optic nerves and spinal cord. Eye pain, vision loss, and paralysis or weakness of the limbs. The immune system mistakenly attacks healthy cells in the central nervous system. Immunosuppressive therapies and plasma exchange. Peter’s anomaly: A rare congenital condition characterized by a central corneal opacity. Cloudy cornea, vision loss, and other eye abnormalities. Genetic mutations or environmental factors during pregnancy. Corneal transplantation in some cases [5].


The eyes, often described as the windows to the soul, are intricate and delicate organs. While the diseases mentioned above are rare, they underscore the importance of regular eye check-ups and genetic counselling, especially for families with a history of eye disorders. Early diagnosis can lead to better management and improved quality of life. As science and medicine advance, there's hope that treatments or cures for these conditions will become available, illuminating the world for those living in the shadows of these rare diseases.


  1. Tanna P, Strauss RW, Fujinami K, et al. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017; 101(1):25-30.
  2. Indexed at, Google Scholar, Cross Ref

  3. Dysli C, Wolf S, Hatz K, et al. Fluorescence lifetime imaging in Stargardt disease: potential marker for disease progression. Investig Ophthalmol Vis Sci. 2016; 57(3):832-41.
  4. Indexed at, Google Scholar, Cross Ref

  5. Trebst C, Jarius S, Berthele A, et al. Update on the diagnosis and treatment of neuromyelitis optica: recommendations of the Neuromyelitis Optica Study Group (NEMOS). J neurol. 2014; 261:1-6.
  6. Indexed at, Google Scholar, Cross Ref

  7. Hirohata S, Kikuchi H. Behçet's disease. Arthritis Res Ther. 2003; 5(3):1-8.
  8. Google Scholar

  9. Coussa RG, Traboulsi EI. Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet. 2012; 33(2):57-65.
  10. Indexed at, Google Scholar, Cross Ref

Get the App