Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient: a case report.

CASE DESCRIPTION: A 12-year-old boy with a history of decreased vision and photophobia since he was 1 year old. Comprehensive clinical and molecular approaches were applied to evaluate his condition by which a detailed ophthalmological examination revealed bilateral isolated foveal hypoplasia with the absence of the avascular zone. Novel homozygous aryl hydrocarbon receptor (AHR) splice site mutation NM_001621.4: c.899_908 + 15del (p.?) was identified and segregated within the family members. CONCLUSION: This case represents the first report of autosomal recessive isolated foveal hypoplasia without infantile nystagmus in the literature and the second reported AHR mutation with autosomal recessive isolated foveal hypoplasia post the original cloning paper. Our identified novel splice site AHR mutation supports the pathogenicity of the AHR gene and expands its phenotypic spectrum.

Acute endophthalmitis caused by Staphylococcus lugdunesis after intravitreal bevacizumab (Avastin) injection.

PURPOSE: To report a case of culture-positive endophthalmitis after intravitreal injection of bevacizumab (Avastin) resulting in a devastating visual outcome. METHOD: A retrospective case report of a 51-year-old diabetic women who presented with further decrease in her vision, redness, and mild pain in her eye 3 days after intravitreal injection of Avastin for macular edema due to a branch retinal vein occlusion. RESULTS: Clinical diagnosis of endophthalmitis was made and, after obtaining a vitreous tap, intravitreal antibiotics were administered. Because of worsening of the endophthalmitis, pars plana vitrectomy was undertaken followed by repeat intravitreal antibiotics injection. The patient's ocular condition improved dramatically; however, her visual acuity did not improve. The cultures from vitreous taps revealed Staphylococcus lugdunesis. CONCLUSION: Intravitreal injection of Avastin may be associated with a risk of S. lugdunesis-caused endophthalmitis which can have a devastating effect on the final visual outcome.

The outcomes and prognostic factors of vitrectomy in chronic diabetic traction macular detachment.

PURPOSE: To investigate the outcomes of pars plana vitrectomy (PPV) for chronic diabetic traction macular detachment (CTMD). METHODS: Ninety-six eyes that underwent PPV for CTMD of at least 6 months duration were retrospectively analyzed. Retinal reattachment rate, final vision, and prognostic factors for poor visual outcome were the main outcome measures. RESULTS: All eyes had long-standing TMD (median 12, range: 6-70 months). The median postoperative follow-up was 15 (range: 3-65) months. Eighty-seven eyes (90.6%) had their retina and macula reattached after one PPV. At final examination, 84 eyes (87.5%) had stable vision or at least one line improvement, and three had no light perception. Seventeen (17.7%) and 41 (43%) eyes had preoperative visual acuity of ≥20/200 and ≥5/200 as compared to 40 (41.6%; P=0.0005) and 64 (66.7%; P=0.0014) eyes at final follow-up, respectively. Age >50 years (Odds ratio [OR] =5.84, 95% confidence interval [CI] =1.53-22.19, P=0.01), preoperative vision <20/400 (OR =7.012, 95% CI =1.82-26.93, P=0.005), and ischemic macula (OR =14.13, 95% CI =3.61-55.33, P<0.001) were significantly associated with final vision <20/400. CONCLUSION: PPV for CTMD may be beneficial particularly in patients who are relatively younger and have good baseline vision and no macular ischemia.

Manifestations of type 2 diabetes in corneal endothelial cell density, corneal thickness and intraocular pressure.

We sought to evaluate central corneal thickness (CCT), corneal endothelial cell density (ECD) and intraocular pressure (IOP) in patients with type 2 diabetes mellitus (DM) and to associate potential differences with diabetes duration and treatment modality in a prospective, randomized study. We measured ECD, CCT and IOP of 125 patients with type 2 DM (mean age 57.1±11.5 years) and compared them with 90 age-matched controls. Measured parameters were analyzed for association with diabetes duration and glucose control modalities (insulin injection or oral medication) while controlling for age. In the diabetic group, the mean ECD (2511±252 cells/mm²), mean CCT (539.7±33.6 µm) and mean IOP (18.3±2.5 mmHg) varied significantly from those the control group [ECD: 2713±132 cells/mm² (P<0.0001), CCT: 525.0±45.3 µm (P=0.003) and IOP: 16.7±1.8 mmHg (P<0.0001)]. ECD was significantly reduced by about 32 cell/mm² for diabetics with duration of >10 years when compared with those with duration of <10 years (P<0.05). CCT was thicker and IOP was higher for diabetics with duration of >10 years than those with duration of <10 years (P>0.05). None of the measured parameters was significantly associated with diabetes duration and treatment modality (P>0.05). In conclusion, subjects with type 2 DM exhibit significant changes in ECD, IOP and CCT, which, however, are not correlated with disease duration or if the patients receive on insulin injection or oral medications.

Novel 'heavy' dyes for retinal membrane staining during macular surgery: multicenter clinical assessment.

PURPOSE: To evaluate the feasibility of two novel 'heavy' dye solutions for staining the internal limiting membrane (ILM) and epiretinal membranes (ERMs), without the need for a prior fluid-air exchange, during macular surgery. METHODS: In this prospective nonrandomized multicenter cohort study, the high molecular weight dyes ILM-Blue™ [0.025% brilliant blue G, 4% polyethylene glycol (PEG)] and MembraneBlue-Dual™ (0.15% trypan blue, 0.025% brilliant blue G, 4% PEG) were randomly used in vitrectomy surgeries for macular disease in 127 eyes of 127 patients. Dye enhanced membrane visualization of the ILM and ERMs, 'ease of membrane peeling', visually detectable perioperative retinal damage, postoperative best-corrected visual acuity (BCVA), dye remnants and other unexpected clinical events were documented by 21 surgeons. RESULTS: All surgeries were uneventful, and a clear bluish staining, facilitating the identification, delineation and removal of the ILM and ERMs, was reported in all but five cases. None of the surgeries required a fluid-air exchange to assist the dye application. BCVA at 1 month after surgery improved in 83% of the eyes in the MembraneBlue-Dual™ group and in 88% in the ILM-Blue™ group. No dye remnants were detected by ophthalmoscopy, and no retinal adverse effects related to the surgery or use of the dyes were observed. CONCLUSION: The 'heavy' dye solutions ILM-Blue™ and MembraneBlue-Dual™ can be injected into a fluid-filled vitreous cavity and may facilitate staining and removal of the ILM and/or ERMs in macular surgery without an additional fluid-air exchange.