Tulay Simsek

Choroidal mass as an initial presentation of lung cancer

Choroidal mass may be a presenting sign of systemic malignancy. The diagnosis of metastatic ocular tumor is important because it can indicate poor prognosis. We report a case of a 45-year-old man presenting to our clinic with the complaint of decreased vision in the left eye, which is the initial finding of non-small cell lung-carcinoma.

A new autosomal dominant Peters’ anomaly phenotype expanding the anterior segment dysgenesis spectrum

Purpose:  To test the association of genes involved in anterior segment development in a family with autosomal dominantly inherited Peters’ anomaly (PA) with a unique ocular phenotype.

Evaluation of corneal biomechanical properties using an ocular response analyser to examine aphakic and pseudophakic patients after congenital cataract surgery.

We evaluated corneal biomechanical properties in aphakic and pseudophakic patients after congenital cataract surgery and compared the data with those of age‐matched normal subjects.

Comparison of Optic Disc Topography in Non-Glaucomatous Eyes of Children With Juvenile Diabetes Mellitus and Normal Children

PURPOSE To compare the optic disc topography parameters of children with juvenile diabetes mellitus and normal children using the Heidelberg Retinal Tomograph (HRT III) (Heidelberg Engineering, Heidelberg, Germany). METHODS The topographic optic disc parameters (cup volume, cup area, rim volume, rim area, disc area, mean cup-to-disc ratio, and mean cup depth) of 28 non-glaucomatous eyes of 28 children with type 1 diabetes mellitus and 28 eyes of 28 age-matched healthy children were compared using the nonparametric Mann-Whitney U test. RESULTS No statistically significant differences were found between cup volume (P = .782), cup area (P = .878), rim volume (P = .853), disc area (P = .452), mean cup-to-disc ratio (P = .852), and mean cup depth (P = .711) of eyes of cases with diabetes mellitus and normal subjects. CONCLUSION This result suggests that non-glaucomatous eyes of children with type 1 diabetes mellitus and healthy subjects have similar topographic optic disc characteristics.

Unusual Association of Peripheral Retinal Ischemia–Induced Neovascular Glaucoma and Neurofibromatosis Type 1

A 12-year-old girl with neurofibromatosis type 1 was referred for pain and blurred vision in her right eye for the past 2 weeks. Neovascular glaucoma associated with peripheral retinal ischemia was diagnosed and she was treated with retinal photocoagulation after intravitreal bevacizumab injection and trabeculectomy.

Bilateral permanent concentric visual field defect secondary to severe pre-eclampsia.

Purpose To present a patient with bilateral permanent concentric visual field defect secondary to severe pre-eclampsia. Case report A forty-year-old woman presented to the ophthalmology department with partial visual field defect affecting her both eyes. She gave a history of emergent uterine curettage for severe uncontrolled pre-eclampsia in the 24th week of her second gestation which was 10 years before. Two days after the procedure, the patient complained of peripheral visual field defect in her both eyes which persisted until her last presentation. Her best-corrected visual acuity, color vision, intraocular pressures, and anterior segment examination findings were normal bilaterally. Fundus examination showed a normal optic nerve head with reduction of arteriole to vein ratio in both eyes. Humphrey Field Analyzer revealed a bilateral concentric visual field defect. Visual Evoked Potentials (VEP) and Electroretinography (ERG) were within normal limits in both eyes. Cranial magnetic resonance imaging (MRI) was normal. Discussion Herein, we presented a case of permanent concentric visual field defect which developed as a complication of severe uncontrolled pre-eclampsia. To the best of our knowledge; such a case has not been reported to date.

Usher syndrome associated with a variant of Dandy-Walker malformation.

Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome.

SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

BackgroundCongenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons.Case presentationWe performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome.ConclusionsWe identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proband.

Bilateral painless testicular mass, acute uveitis and annular cutaneous lesions: an unusual presentation of sarcoidosis and literature review

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