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Clinical history

26 yo healthy male, referred from optometrist for pigmented retinal lesions.

Nyctalopia since age 3, no other subjective symptoms

No family history.

Exam

Visual Acuity: 20/20 OU

PERL
Ishihara plates 17/17 OU
SLE: Small PSCC OU


Fundus/VF/FAF/OCT (hover over image to pause)

Fundus photoFundus photo (peripheral)OD GVFFAF OSOCT

Diagnosis/Review of findings

History and findings consistent with severe Sporadic RP 

Although VA remains unattenuated in this case, the patient's other findings at this age would point towards severe RP. Given the sporadic pedigree it is most likely AR RP.

Review of findings:

Normal colour vision and VA consistent with primarily rod dysfunction at this time in patient's disease. PSCC often seen with diagnosis of RP.

Fundus photos: Note the peripheral bone spicules with mottled retinal appearance and demarcation between normal and abnormal retina. Posterior pole remarkable for arteriolar attenuation.

Visual fields: Significant restriction with residual central 20-30 degrees and temporal island. 

FAF: Small hyperautofluorescent ring (seen in ~ 50% of RP, constricts with time and disease progression. The hyperautofluorescence represents area of active disease; outside of the ring signal is abnormal diffusely while inside FAF is relatively preserved/normal.

OCT: Marked loss of IS/OS junction (also known as elliptoid zone EZ) with preserved foveal/perifoveal anatomy. Note that the outer edges of normal IS/OS junction correspond roughly to hyperautofluorescent ring on FAF. Foveal thinning also present.