Unilateral retinitis pigmentosa. A case report

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Retinitis pigmentosa (RP) is a group of inherited retinal diseases.
• Unilateral RP is a rare variant, accounting for 0.2%-5% of all RP cases.
• This condition predominantly affects women and may present later in life compared to bilateral RP.

Observation:

• A 27-year-old female presented with nyctalopia (night blindness) and constricted visual field in the right eye.
• Ophthalmological examination revealed unilateral visual field defects and abnormal electroretinogram (ERG) findings.
• The unilateral presentation of RP persisted during a one-year follow-up period.

Findings:

• The case demonstrates a classic presentation of unilateral retinitis pigmentosa.
• Diagnostic confirmation requires unilateral abnormalities in funduscopy and ERG.
• Exclusion of other potential causes, including infectious, inflammatory, and vascular conditions, is crucial for diagnosis.

Implications:

• This case underscores the importance of recognizing rare variants of common diseases.
• Accurate diagnosis of unilateral RP is essential for appropriate patient management and genetic counseling.
• Further research into the specific etiology and progression of unilateral RP may improve understanding and treatment.