A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

We report on an inbred Emirati family of Baluchi origin with ocular colobomas, ichthyosis, and endocrine abnormalities associated with midline brain malformations and mental retardation. All affected children had ocular colobomas, developmental delay and midline brain malformations. Hypoplastic pituitary gland was present in all three investigated children. Ichthyosiform dermatitis appeared in infancy in all surviving children. Other variable features include congenital heart defects, hypertrichosis and dark skin involving the dorsum of hands and feet associated with mild degree of palmo-plantar keratoderma. Some of the features in this family overlap the CHIME (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and Ear defect) syndrome. However, several features described in CHIME syndrome were not present in these children. These include deafness, seizures, oligodontia, and hair abnormalities. Some of the features in these children also overlap with septo-optic dysplasia (SOD) but optic nerve hypoplasia, mandatory for the diagnosis of SOD, was present in one child only. We suggest that these children have a new autosomal recessive syndrome of ocular colobomas and ichthyosis.

Sulphur hexafluoride in the treatment of flat anterior chamber following trabeculectomy.

The efficacy and side effects of sulphur hexafluoride (SF6) in the reformation of the flat anterior chamber (AC) after standard trabeculectomies were studied. Ten patients with lenticulocorneal touch following trabeculectomy were enrolled. All had water-tight conjunctival wounds with overflowing fistulas. In 5, one to four surgical attempts to reform the AC were unsuccessful. Two to seven days after trabeculectomy, the AC was reformed by a single injection of SF6/air mixture (20-40%). Gas was injected through the limbus at 3 or 9 o'clock. The AC remained deep after absorption of the gas in 2-7 days. All patients had stromal oedema in the first 4 days. This resolved and specular microscopy did not show any abnormality. After a mean follow-up of 2.5 years, all had normal intraocular pressure, 3 with one topical antiglaucoma treatment. Three patients developed cataracts before and 3 after reformation of the AC. The latter 3 were not anterior capsular cataracts as induced by gases. SF6/air mixture (20-40%) is inert and kind to the cornea and, as it is absorbed in less than 7 days, it exerts minimal damage to the crystalline lens. It is effective in the reformation of flat ACs.

Advanced cicatricial retinopathy of prematurity--outcome and complications.

AIMS: To assess the outcome and complications of patients with advanced retinopathy of prematurity (ROP). METHODS: All patients with eyes achieving stage 4 or 5 retinopathy of prematurity were reviewed. Twenty one eyes were diagnosed during ROP screening in maternity hospitals and 10 eyes were of infants transferred for treatment. RESULTS: Thirty one eyes of 17 patients were included. Thirteen eyes were treated for acute disease but progressed to stage 4 or 5; seven had cryotherapy and six diode laser photocoagulation. Cataract was found in 17 eyes (54.8%), glaucoma in seven eyes (22.6%), microphthalmos in 15 (48.4%), and corneal opacification in four eyes (12.9%). Fifteen eyes had surgical procedures; two (6.5%) had trabeculectomy, four (12.9%) had lensectomy, and nine (29%) retinal detachment repair. Transferred infants had their initial eye examination later than infants in hospitals screened by the authors and 80% of them had progressed beyond threshold ROP by the time they were transferred for treatment. Twenty nine eyes (93.6%) had visual acuities of 3/60 or less and only two eyes (6.5%) achieved 6/18 or less. CONCLUSION: The visual outcome of the eyes undergoing retinal re-attachment surgery was disappointing. Cataract, microphthalmos, and glaucoma were the most frequent complications, and surgical intervention was often required. The need for children who are blind as a result of ROP to have long term follow up is shown.

Regression after photorefractive keratectomy for myopia.

OBJECTIVE: To evaluate the effect of topical steroid treatment in eyes that showed refractive regression after photorefractive keratectomy (PRK) to correct myopia. SETTING: Mater Private Hospital, Dublin, Republic of Ireland. METHODS: In this prospective study with a minimum of 6 months follow-up, 289 eyes were treated over 2 1/2 years. Of these eyes, 23 had myopic regression of 0.75 diopters (D) or more. Topical steroid treatment was given to reverse the regression. Refraction and uncorrected visual acuity before and after treatment were measured. RESULTS: Twelve eyes in the regression group had at least 18 months of follow-up. At the final examination, eight of these eyes had an uncorrected visual acuity of 20/40 or better; six were within 1.00 D of intended refraction. CONCLUSION: Refractive regression after PRK for myopia was permanently reversed in some eyes; final stable refraction was close to the intended value in about half.

Diode laser photocoagulation to the vascular retina for progressively advancing retinopathy of prematurity.

AIMS: To estimate the effectiveness of diode laser photocoagulation of the retina posterior to the ridge in eyes with retinopathy of prematurity (ROP). METHODS: Diode laser photocoagulation was applied posterior to the fibrovascular ridge in stage 4a ROP in six eyes of four infants and in advancing stage 3+ in two eyes of one infant. Seven eyes had previously been unsuccessfully treated with diode laser photocoagulation anterior to the ridge. RESULTS: Six eyes of four children had total regression, two eyes of two children had flat maculae with residual peripheral tractional detachment and maintained vision. CONCLUSION: These preliminary results indicate that diode laser photocoagulation posterior to the ridge may be a useful treatment in late stage 3 and stage 4A ROP following failed laser treatment to the avascular retina in threshold stage 3 disease.

Randomized clinical trial of topical sodium hyaluronate after excimer laser photorefractive keratectomy.

BACKGROUND: Sodium hyaluronate (Healon) has been reported to promote corneal epithelial healing following severe eye burns in humans and rabbits. Endogenous hyaluronate has been shown to be significantly increased in the corneal tissue following extracapsular lens extraction, anterior segment trauma, and radial keratotomy. The authors report the use of topical sodium hyaluronate administration on the cornea of eyes which have been treated by photorefractive keratectomy for myopia. METHODS: Forty eyes of 40 patients undergoing excimer laser photorefractive keratectomy for myopia were studied to evaluate the effect of topical sodium hyaluronate versus placebo (Healon buffer) instillation on pain and corneal epithelial healing in an observer blind randomized clinical trial. RESULTS: There was no significant difference between patients whose eyes were treated with sodium hyaluronate and those treated with a placebo (Healon buffer), with regard to the amount of postoperative pain or the rapidity of corneal epithelial healing. CONCLUSIONS: Topical sodium hyaluronate administration showed no effect on pain or corneal epithelial healing following photorefractive keratectomy in this study.

Astigmatism following photorefractive keratectomy for myopia.

BACKGROUND: Astigmatism following photorefractive keratectomy for myopia has been reported as stable as early as 2 to 3 months. The authors report 36 out of 60 consecutive eyes with variations in the cylindrical component of their refraction at 6 months after laser treatment. METHOD: A standard photorefractive keratectomy was carried out on 60 consecutive eyes in 52 patients over a 7-month period. The manifest refraction of these eyes was followed for 6 months. RESULTS: Thirty-six eyes demonstrated a change in the cylindrical element of their refraction manifested as a change in cylinder power or axis, or both. The mean pretreatment cylinder power in the group that underwent a change in the cylindrical element was significantly higher than the mean of the group where this did not take place. The mean cylinder power change was 0.75 diopters (D) and in 9 eyes this change was 1.00 D or more. The corrected and uncorrected postoperative visual acuities were the same in the two groups. CONCLUSIONS: This observation implies meridional variability in the healing process of the anterior cornea following photorefractive keratectomy.

Refractive outcome following diode laser versus cryotherapy for eyes with retinopathy of prematurity.

The refractive error in 15 eyes with threshold retinopathy of prematurity treated with diode laser photocoagulation was compared with 25 eyes with the same disease severity treated by cryotherapy. Myopia was present in 40% (six eyes) of the first group ranging from -1.50 to -3.50 dioptres; while 92% (23 eyes) showed myopia which ranged from -0.50 to -8.00 dioptres in the cryotherapy group. Sixty per cent (nine eyes) were hypermetropic at less than +3.0 dioptres in the laser group, while only 8% (two eyes) of the cryotherapy group showed hypermetropia. There was no significant difference in astigmatism between the two groups. Eyes with threshold disease treated with diode laser photocoagulation developed significantly less myopia than those treated with cryotherapy (p = 0.0006, two tailed value).

Herpes simplex keratitis in children.

Ophthalmic findings are reported in 31 eyes of 28 children with herpes simplex keratitis. Twenty two had dendritic ulcers, and nine had geographic ulcers or disciform stromal keratitis. After resolution of keratitis, 80% (19/22) of children with dendritic ulcers achieved corrected visual acuity of 6/9 or better, 50% (11/22) had induced astigmatism, 45% (9/22) had one to five recurrences. In the group with geographic or disciform lesions, 89% (8/9) had reduced corrected vision, 78% (7/9) had induced astigmatism which was predominantly against the rule, and 87% (7/9) had one to six recurrences.