ABSTRACT
A 47-year-old lady (index case) with diabetes and deafness showed multiple oval circumferential areas of perifoveal atrophy in both eyes. Autofluorescence revealed areas of hypoautofluorescence. Optical coherence tomography (OCT) showed depression of inner retinal surface, inner retinal hyporeflective spaces (pseudocysts), disorganization/thinning of outer retina, outer retinal tubulation, loss of external limiting membrane, ellipsoid and interdigitation zone, and thinning of the retinal pigment epithelium and choriocapillaris. The patient was evaluated using OCT angiogram. Retinal lesions of her mother (68-year-old) were very obvious on autofluorescence imaging. The result of A3243G mutation in MTTL1 gene was positive in the index case confirming the diagnosis of maternally inherited diabetes and deafness (MIDD).
ABSTRACT
A 74-year-old male presented to us with a history of vision loss for 36 hours in the right eye (RE). The RE had a visual acuity of hand movements. The fundus revealed a pale retina, cattle tracking in the retinal vessels, and a cherry-red spot at the macula. The patient was a known case of pyoderma gangrenosum (PG) and had received intravenous methylprednisolone and cyclophosphamide at the onset of visual symptoms. An emergency anterior chamber paracentesis was performed following unsuccessful attempts of ocular massage. The patient improved to 6/9 in the RE 4 months after paracentesis. The patient had an aggressive course of PG, for which he needed a combination of oral steroid, immunomodulator therapy and biologicals. An association between central retinal arterial occlusion and PG has not been reported before, according to the best of authors' knowledge.