RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA.

PURPOSES: To correlate the clinical picture and fundus fluorescein angiography findings in case of presumed cutis marmorata telangiectatica congenita.

METHODS: A 41-year-old woman with presumed cutis marmorata telangiectatica congenita who is a known case of hypothyroidism for the last 6 years and has bilateral peripheral retinal vascular abnormalities, peripheral retinal nonperfusion on fluorescein angiography and bilateral optic disk drusen.

RESULT: A patient presented with blurring of vision in both eyes for last 6 months. On examination, livedo reticularis skin lesions in both upper and lower extremities were noted. Best-corrected visual acuity in the right eye was 6/18 and left eye was 6/36. Slit-lamp examination revealed posterior subcapsular cataract in the right eye. Fundus examination showed bilateral optic disk drusen, tortuous blood vessels, and peripheral fan-shaped sclerosed neovascularization. Fundus fluorescein angiography showed peripheral retinal nonperfusion. She underwent peripheral laser photocoagulation of the left eye and cataract surgery in the right eye. After 2 years of follow-up, her best-corrected visual acuity was 6/9 in both eyes. Her fundus examination and fundus fluorescein angiography findings were stable in both eyes.

CONCLUSION: Presumed cutis marmorata telangiectatica congenita is a rare cutaneous vascular disorder that can manifest with nonprogressive retinal vascular abnormality and optic disk drusen.