Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity-a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development.

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.

Current indications and resultant complications of evisceration.

PURPOSE: Evisceration is an alternative treatment modality to enucleation for many end-stage eye diseases. No study has addressed the indications for evisceration of eyes in Saudi Arabia. The aim of this study was to determine the current clinical indications for evisceration in patients at a tertiary eye care center and attempt clinicopathological correlation. METHODS: Clinical records of patients who had undergone evisceration at a tertiary eye care center over a 4-year period were reviewed retrospectively. The patients' demographic data and clinical indications for evisceration were studied, and the results from histopathological findings were correlated with the clinical diagnosis. RESULTS: Evisceration of the eyes was performed in 187 patients. Males outnumbered females in a ratio of 1.3:1 (105 males and 82 females). Blind painful eye was the primary presenting symptom in 117 (62.6%) patients and unsightly eye in 38 (20.3%) patients. Clinical indications for evisceration included endophthalmitis in 85 (45.5%), phthisis bulbi in 38 (20.3%), traumatic injury in 36 (19.2%), and glaucoma in 14 (7.5%) patients. Sixty-three patients (33.7%) had prior history of cataract surgery, penetrating keratoplasty, glaucoma surgery, or retina surgery. Clinicopathological correlation was 100% in cases with definite clinical diagnosis of endophthalmitis. CONCLUSION: Blind painful eye, endophthalmitis, phthisis bulbi, severe traumatic injury, and glaucoma were the major indications for eviscerations in a tertiary eye care center.

Lack of Correlation Between Diabetic Macular Edema and Thickness of the Peripapillary Retinal Nerve Fibre Layer.

INTRODUCTION: We compared the thickness of the peripapillary retinal nerve fiber layer (RNFL) in patients with diabetic macular edema (DME) and/against the thickness in the normal population. METHODS: This cross-sectional study compared the RNFL thickness in patients with DME (DME group) using optical coherence tomography (OCT) to a comparable group of healthy (nondiabetic) patients (control group). Measurements were performed in different/the four peripapillary quadrants and in the macula region for the fovea, parafoveal, and perifoveal areas. The mean RNFL thickness was compared between both groups. RESULTS: There were fifty eyes of fifty nonglaucomatous diabetic patients with DME (29 with nonproliferative diabetic retinopathy [PDR] and 21 with PDR), and fifty eyes in the control group. The macular regions were significantly thicker in the DME group compared to the control group. The central foveal thickness was 149 µ thicker in eyes with DME compared to the control group (P < 0.001). The difference in total RNFL thickness between groups was not significant (4.4 µ [95% confidence interval: -3.1 to +12]). The between-group differences in peripapillary RNFL thickness by age group, glycemic control, history of intravitreal treatments, and refractive errors were not statistically significant (P > 0.05, all comparisons). CONCLUSION: Peripapillary RNFL thickness measurements were not significantly influenced by DME. Hence, OCT parameters could be used to monitor/early detect glaucomatous eyes even in the presence of DME.

Argon Laser Photoablation for Treating Benign Pigmented Conjunctival Nevi.

PURPOSE: To evaluate the outcomes of argon laser photoablation of benign conjunctival pigmented nevi with different clinical presentations. PATIENTS AND METHODS: This interventional case series was conducted between July 2014 and January 2015. Patients presenting with benign conjunctival nevi were included. Data were collected on the clinical features at presentation, argon laser photoablation, and follow-up at 8 and 24 weeks. Postoperative photography allowed recording of the success of each case and the overall success rate. Complete removal of conjunctival pigments was considered an absolute success. Partial pigmentation requiring repeat laser treatment was considered a qualified success. RESULTS: There were 14 eyes (four right eyes and ten left eyes) with benign pigmented conjunctival nevi. There were three males and eight females in the study sample. The median age was 36 (25% percentile: 26 years). Three patients had bilateral lesions. The nevi were located temporally in nine eyes, nasally in three eyes, and on the inferior bulbar conjunctiva in two eyes. The mean horizontal and vertical diameters of nevi were 5 ± 2 mm and 4 ± 2.7 mm, respectively. The mean follow-up period was 5 months. Following laser treatment, no eyes had subconjunctival hemorrhage, infection, scarring, neovascularization, recurrence, or corneal damage. The absolute success rate of laser ablation was 79%. Three eyes with elevated nevi had one to three sessions of laser ablation resulting in a qualified success rate of 100%. CONCLUSIONS: Argon laser ablation was a safe and effective treatment for the treatment of selective benign pigmented conjunctival nevi in Arab patients.

Cataract Surgery Audit at a Private Hospital in Saudi Arabia.

BACKGROUND: To assess the visual outcomes following cataract surgeries at a Private Eye Hospital in Riyadh, Saudi Arabia. METHODS: This was a cohort study of cataract surgeries performed from January to June 2014. Preoperative data were collected on patient demographics presenting and best corrected distance visual acuity (BCVA) and ocular comorbidity. Data were also collected on the type of surgery, type of intraocular lens (IOLs) implanted, and complications. BCVA and refractive status at 6-8 weeks postoperatively were noted. The predictors of vision ≥ 6/18 were identified. RESULTS: Four hundred eyes of 400 patients underwent cataract surgery. There were 235 (59%) males. Presenting preoperative vision was < 6/60 in 52 (13%) eyes. There were 395 (99%) eyes that underwent IOL implantation following phacoemulsification and 4 eyes received a sulcus fixated IOL. A single piece aspheric IOL was implanted in 358 (90%) eyes and a toric IOL was implanted in 31 (8%) eyes. Postoperative BCVA was classified as a "good outcome" (≥ 6/18) in 320 (80%) and a "poor outcome" (< 6/60) in 24 (6%) eyes. Young age (adjusted odds ratio (OR) = 0.97, P = 0.01), male (adjusted OR = 2.4, P = 0.002), and ocular co-morbidities (adjusted OR = 0.2, P < 0.001) were predictors of vision ≥ 6/18. Complications included a dropped nucleus and a posterior capsular tear in 2 eyes each. Two hundred and fifty-two (63%) eyes were emmetropic or intentionally myopic for distance. Astigmatism < 2 D was present in 264 (66%) eyes and astigmatism > 2 D was present in 33 (8%) eyes. CONCLUSION: The recent trend of intentional overcorrection in one eye following modern cataract surgery in order to provide some functional near vision indicates that benchmark for success in getting "good visual outcomes" postoperatively (vision of ≥ 6/18) may need to be revised.

Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia.

BACKGROUND: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment. CASE: Retrospective, interventional, case report of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome. OBSERVATION: Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and malformed teeth. Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosis, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal palpebral fissures, lateral lower eyelid eversion and resultant epiphora. Other abnormalities included medial lower epicanthal folds, abduction deficit bilaterally, large esotropia, significant hyperopia, right corneal opacity, iris and chorioretinal coloboma. Patient required hyperopic correction and ptosis surgery, which improved her visual functioning. CONCLUSIONS: We report the first case of a Kabuki syndrome patient from Saudi Arabia and stress on the importance of ophthalmological examination in all patients with KS for the early detection of ocular anomalies in order to prevent visual impairment.