[Atypical tapetoretinal degeneration simulating a neurologic syndrome]

Area of Science:

• Ophthalmology and Medical Retina

Background:

• Progressive bilateral visual acuity loss over ten years was initially presumed to be neurological.
• Ophthalmological examination revealed optic disc pallor and arteriolar narrowing, with normal peripheral findings.

Observation:

• Fluorescein angiography demonstrated widespread irregular hypopigmentation and bilateral macular edema.
• Electroretinography confirmed abnormal rod function, indicating retinal dysfunction.

Findings:

• The case presents an atypical, non-pigmented form of retinitis pigmentosa.
• Macular edema was a significant finding, often associated with early or atypical retinitis pigmentosa stages.
• Literature review confirms the variability of retinitis pigmentosa symptoms, including non-pigmented variants.

Implications:

• This case underscores the importance of comprehensive ophthalmological evaluation for unexplained vision loss.
• Recognizing atypical retinitis pigmentosa presentations is crucial for accurate diagnosis and management.
• Early detection of macular edema in such cases may guide timely therapeutic interventions.