Murat Koksal

Fine mapping of the Schnyder’s crystalline corneal dystrophy locus

Schnyder’s crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32xa0Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58xa0Mbp.

Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy.

Objective: To emphasize the effectiveness of phototherapeutic keratectomy (PTK) in a patient with Schnyder crystalline corneal dystrophy (SCCD). Methods: Case report. Results: Two eyes of a patient with SCCD underwent PTK. Best corrected visual acuity (BCVA) increased from 2/10 to 8/10 (plano/−1.50 × 10) in the right eye in a lit room. BCVA of the left eye was 4/10 (−8.00/−1.50 × 170) and did not change after treatment because of anisometropic amblyopia. No recurrence was detected after 68 months of follow-up. Conclusion: PTK may be effective in the treatment of SCCD, especially if the crystals are the cause of visual disturbance.

Oculomotor palsy with cyclic spasms: a case report

Oculomotor palsy with cyclic spasms is a rare, non-progressive disorder in which the muscles innervated by the third cranial nerve undergo alternating rhythmic spasm and paralysis. An 18-year-old male was referred with left upper eyelid ptosis present since birth. On examination we noted cyclic movements of the left eyelid and pupil. The cycle consisted of periods of ptosis and mydriasis alternating with eyelid retraction with miosis. The interpalpebral fissure measured 2 mm in the paralytic phase and 11 mm in the spastic phase. The pupil diameter varied from 3 mm to 6 mm. Six cycles were observed in 5 minutes. The patient had no voluntary control over his left eyelid, nor over the other muscles innervated by the third nerve. The affected eye was deeply amblyopic and exotropic. Systemic evaluation and cranial MRI gave normal results. A therapeutic trial with oral baclofen (30 mg/day), a central muscle relaxant drug, was ineffective in suppressing the cyclic movements.

Acquired Retraction of the Eye as the First Sign of Myositis

The authors report a patient who was diagnosed with idiopathic orbital myositis based on the findings of diplopia, worse on right gaze, globe retraction on adduction and injection at the lateral muscle tendon insertion of the left eye. Although orbital myositis as a cause of acquired retraction of the eye is rare, they wish to emphasize the importance of globe retraction with injection over the recti as an important clue for the diagnosis of orbital myositis.

Acute corneal decompensation after silicone oil removal

Purpose: To assess acute corneal decompensation after silicone oil removal in some aphakic eyes with clear corneas whose anterior chambers were completely filled with silicone oil for a considerable period of time. Methods: Eight eyes of 8 patients who underwent vitrectomy and intraocular silicone oil injection were studied. All the eyes were aphakic and anterior chambers were completely filled with silicone oil. In all eyes, corneas were clear and no corneal finding indicating keratopathy was detected by slit-lamp microscopy before silicone oil removal. The mean silicone oil removal time was 4 months (range 2–7 months). A specular microscope was used for the evaluation of corneal endothelial changes and corneal pachometry was performed to observe corneal changes before and after the silicone oil removal in 5 eyes besides slit-lamp microscopy. The follow up period after silicone oil removal was 2–12 months (mean 6 months).Results: In all eyes severe corneal stromal edema and clouding was detected in the first day following silicone oil removal. Increased corneal thickness was seen in all eyes. Decreased (at or below critical levels) corneal cell density was detected by specular microscopy before and after silicone oil removal. No significant improvement was observed during the follow up period. Conclusion: Eyes whose anterior chambers completely filled with silicone oil could be evaluated as clear corneas by slit lamp microscopy despite severe endothelial damage. We recommend that eyes with silicone oil in the anterior chambers should be monitored by a combination of slit-lamp microscopic examination and specular microscopy to determine the relative corneal endothelial tolerance to the silicone oil and endothelial damage. Early removal of the silicone oil can be considered when the retinal adhesion allows.

The Management of Refractory Dry Eye With Semi-Scleral Contact Lens.

We presented a case of refractory dry eye management with semi-scleral contact lens. Dry eye was associated with facial nerve (cranial nerve VII) palsy as a result of cerebellopontine angle tumor surgery. She was treated with several topical treatments and punctal plug. Despite the treatments, her symptoms still persisted. Her ophthalmic examination revealed scleral exposure because of lagophthalmos, conjunctival hyperemia, corneal debris, scar, and diffuse punctate epitheliopathy on her right eye. Lissamine green staining showed diffuse conjunctival and corneal staining. Therapeutic semi-scleral lenses were fitted. The corneal findings were resolved and the quality of patient life was improved with the aid of semi-scleral lens after 3 months.

Effect of ocular compression on intraocular penetration of systemic ofloxacin.

Intraocular levels of ofloxacin are documented after topical and systemic administration, but systemic administration of ofloxacin in ocular compression has not yet been studied. This study was undertaken to determine the intraocular penetration of systemic ofloxacin into aqueous and vitreous humor after the application of ocular compression in rabbit eyes. Ocular compression with the Honan balloon was applied for 30 min to the right eyes of 11 albino New Zealand white rabbits. After the application of ocular compression, 2 mg/mL of ofloxacin was administered intravenously. Samples from aqueous and vitreous humor were collected 30 min after infusion. Ofloxacin concentrations were determined through high-performance liquid chromatography. The mean aqueous level of ofloxacin was significantly higher in the compression group (2.40±1.00 gmg/mL) than in the no-compression group (1.61 ±1.06 μg/mL) (P < .05). The mean vitreous concentrations of ofloxacin were 0.70+-0.33 μg/mL and 0.50±0.18 μg/mL in the compression and no-compression groups, respectively. A significant difference was observed between vitreous levels of ofloxacin in the compression and nocompression groups (P < .05). Ocular compression enhanced the penetration of ofloxacin in both aqueous and vitreous humor. The drug level in the aqueous humor was sufficient for the minimum inhibitory concentration for 90% of isolates (MIC90) to inhibit most microorganisms. Although the mean vitreous ofloxacin concentration was increased by previous ocular compression, it was not sufficiently above the MIC90 for most ocular pathogens that caused endophthalmitis.

Orbital hydatid disease: A case report

Orbital hydatid cysts are a rare cause of proptosis and comprise only 1% of all hydatid cysts. We report a 13-year-old boy with orbital hydatid cyst and investigate radiologic, ultrasonographic and clinical aspects of the disease. The cyst was excised totally without rupture through a lateral orbitotomy approach. Hydatid cyst is endemic in some countries and sporadic cases are seen with increasing international travel.