Characterization of macular edema from various etiologies by optical coherence tomography.

PURPOSE: To use optical coherence tomography (OCT) to characterize the intraretinal changes associated with macular edema (ME) according to its etiology. DESIGN: Observational case series. METHODS: Seventy-eight eyes of 78 patients with ME were examined retrospectively by OCT, using the Humphrey 2000 OCT system (Humphrey Co., San Leandro, California). ME etiologies were diabetic retinopathy (27 cases), central retinal vein occlusion (18 cases), pseudophakia (15 cases), posterior uveitis (10 cases), and retinitis pigmentosa (eight cases). Macular thickness was measured using OCT mapping software. It was correlated with logarithmic visual acuity. RESULTS: In 72 of 78 cases (92%), ME was located in the outer retinal layers. Serous retinal detachment was present in 29 of 78 cases (37%). It was most frequent in central retinal vein occlusion (10 of 18 cases, 56%). There were no significant differences in visual acuity (P = .26) or macular thickness (P = .95) whether or not serous retinal detachment was combined with ME. The posterior hyaloid was partially detached in 17 of 78 cases (22%) of overall cases. Serous retinal detachment did not correlate with partial posterior hyaloid detachment (P = .6). Mean macular thickness ranged from 506 microm in central retinal vein occlusion to 373 microm in retinitis pigmentosa. Visual acuity correlated with macular thickness in diabetic retinopathy (R = 0.55; P = .0027) and pseudophakia cases (R = 0.66; P = .016). CONCLUSIONS: OCT characterized the retinal morphologic changes associated with ME, especially the vitreomacular relationship and sub-clinical serous macular detachment. This detachment did not correlate with poor visual acuity. Macular thickening only correlated with visual loss in diabetic retinopathy and pseudophakia.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.