Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome.

PURPOSE: To report a case of Turner syndrome associated with iridogoniodysgenesis accompanied by somatic malformations. METHODS: A 29-year-old woman underwent complete ophthalmologic and general examination. Incomplete development of the angle with iris stromal hypoplasia and prominent posterior embryotoxon with iris adhesions were noted. Disc drusen was confirmed by ultrasonography. Visual fields were normal other than bilateral enlargement of blind spot. Intraocular pressure was under 21 mm Hg during 8 years of follow-up without medication. The patient had atrial septal defect, sensorineural hearing loss, polycystic ovaries, hirsutism, glomerulosclerosis, dental anomalies, and low intelligence. A chromosome analysis revealed that she had mosaic Turner syndrome with a 45,X/46,XX karyotype. CONCLUSIONS: Few reported cases in the literature describe the coexistence of Axenfeld-Rieger syndrome and Turner syndrome mosaicism. Somatic and anterior chamber malformations in this patient represent a developmental disorder of the neural crest. General examination and chromosomal analysis are indicated in patients presenting with anterior chamber dysgenesis.

Impression cytology and ocular characteristics in ocular rosacea.

PURPOSE: To examine clinical findings and histologic changes on the conjunctival surface in ocular rosacea. METHODS: Thirty-five patients with ocular rosacea and 30 normal subjects underwent dermatologic and ocular examinations. Tear film break-up time, Schirmer tests with and without topical anesthesia, and conjunctival impression cytology were done. Patients were divided into the following groups according to quantity of ocular signs: mild (Group 1), moderate (Group 2), and severe (Group 3). Impression cytology was performed on both upper-bulbar and intrapalpebral inferonasal-bulbar conjunctiva. RESULTS: Patients had significant cell alteration on the conjunctival surface compared with normal eyes. The most frequent ocular signs and symptoms were feelings of dryness and blepharitis. Average tear break-up times for patients with ocular rosacea were 8.2 seconds in Group 1, 5.69 seconds in Group 2, and 5 seconds in Group 3 (17.2 seconds in normal subjects). Schirmer test results with anesthesia were 11.5 mm, 7.6 mm, and 5.0 mm, and without anesthesia were 14.8 mm, 13.6 mm, and 7.0 mm, in Groups 1, 2, and 3, respectively. These results were 18.7 mm with anesthesia and 24.7 mm without anesthesia in normal controls. Schirmer tests and tear film break-up time were significantly lower in patients with ocular rosacea than in normal controls (p < 0.05). Impression cytology showed that both upper bulbar and inferonasal interpalpebral bulbar ocular surface had significant cell alterations compared with those obtained from normal subjects. CONCLUSIONS: Patients with ocular rosacea not only had decreased tear production but also tear instability. Ocular surface epithelium had significant degeneration in patients compared with normal subjects.

BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.

PURPOSE: To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. METHODS: Four generations of a single family with corneal dystrophy were analyzed. Fourteen family members were examined and 11 were found to be affected by clinical evaluation. Genetic DNA was extracted from proband's leukocytes for molecular analysis. Exons 4 and 12 of the BIGH3 gene were amplified then directly sequenced. RESULTS: The clinical appearance of corneas consisted of grayish white granules with sharp borders, fine dots, and radial lines in the superficial part of the central corneal stroma, which resembles granular and Avellino corneal dystrophies. Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy. CONCLUSION: Direct clinical examination may be insignificant in the proper diagnosis of corneal dystrophies, and molecular genetic approach may be required.

Implantation of scleral-sutured posterior chamber intraocular lenses during penetrating keratoplasty.

PURPOSE: To evaluate the clinical outcome in 29 patients (29 eyes) who underwent penetrating keratoplasty and scleral-fixation of an intraocular lens. METHODS: The indications for penetrating keratoplasty with scleral-fixation of an intraocular lens were anterior chamber pseudophakic corneal edema, aphakic corneal edema, trauma, and corneal scars. Patients with pseudophakic corneal edema underwent IOL exchange and penetrating keratoplasty and patients with lens subluxation underwent cataract extraction and penetrating keratoplasty in the same operation session. RESULTS: Preoperative spectacle-corrected visual acuity was hand motion in 13 eyes (44.8%) and 20/400 in 18 eyes (61.5%). Postoperative spectacle-corrected visual acuity of 20/400 or better was observed in 25 eyes (86.2%). At last follow-up, 26 corneal grafts (89.7%) remained clear. Three grafts (10.3%) failed, two because of glaucoma and one because of endophthalmitis. Glaucoma was observed in 7 eyes. CONCLUSION: Trans-scleral fixation of intraocular lenses combined with penetrating keratoplasty was a useful surgical technique in eyes with keratopathy and lacking posterior capsular support.

Penetrating keratoplasty in patients with corneal scarring due to trachoma.

BACKGROUND AND OBJECTIVE: Trachoma remains the leading cause of preventable corneal blindness. The outcome of penetrating keratoplasty (PK) in these patients is usually poor because of the extensive corneal vascularization, adnexal and ocular surface problems. We evaluated the long-term results of PK in patients with corneal scarring due to trachoma. PATIENTS AND METHODS: The fiels of 16 eyes of 13 patients who underwent PK due to late sequel of trachoma were reviewed. RESULTS: Preoperative visual acuity ranged from light perception to finger counting levels. Preoperatively, dry-eyes, meibomian gland dysfunction, trichiasis and cicatricial entropion were treated. Over a mean postoperative follow-up of 26.1 +/- 15.6 months (range of 14-61 months), eyes required redrafting due to graft rejection and failure, and corneal ulceration (12.5%). Fourteen eyes remained clear grafts (87.5%), and 13 eyes (81.3%) achieved 0.1 or better visual acuity. CONCLUSIONS: These results suggest that although patients with corneal scarring due to trachoma are at high risk, PK may be helpful for visual rehabilitation.