Biomedical subjects
Publications and source records attributed to Arif O Khan.
Isolated retinal venous occlusion rarely occurs in otherwise-healthy children.(1-3) We report a unilateral case of central retinal vein occlusion with secondary proliferative retinopathy and neovascular glaucoma in a 6-year-old girl. Despite an extensive workup, no etiology was identified.
A rare cause of axial proptosis, orbital epithelial cysts are presumed to be of conjunctival origin if the wall is composed of nonkeratinized squamous epithelium (especially if goblet cells are present). These cysts can occur at any age and are typically surgically resected if symptomatic. The subject of this report is the management of a congenital orbital epithelial cyst by needle aspiration in a newborn with ipsilateral esotropia and severe unilateral proptosis.
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Duane retraction syndrome is a congenital incomitant strabismus caused by dysinnervation of the medial and lateral rectus muscles. Patients with unilateral Duane syndrome (80-90% of cases) who exhibit a fixation preference tend to prefer the unaffected eye. We describe 8 patients with unilateral Duane syndrome who prefer the affected eye. The most frequent associated ophthalmic finding was decreased vision in the unaffected eye from anisometropia and/or amblyopia. An additional associated finding was decompensated intermittent exotropia in 2 patients.
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PURPOSE: To describe the clinical characteristics of bilateral Duane syndrome. METHODS: Retrospective medical record review (1982 to 2003) for patients with a diagnosis of Duane syndrome (examined by a pediatric ophthalmologist) who were bilaterally affected and had no prior ocular surgery. Data collected included type of Duane syndrome, gender, family history for strabismus, abnormal head position, versions, strabismus measurements, associated ocular and/or nonocular abnormalities, and amblyopia status. RESULTS: Of 270 patients with the diagnosis of Duane syndrome, 37 (14%) were bilaterally affected. None had ocular surgery prior to referral. Twenty-two (59%) were male, 35 (95%) had the same Duane syndrome type in both eyes, 29 (78%) had strabismus in primary position, 9 (24%) had ocular and nonocular congenital abnormalities, 6 (16%) had amblyopia, and 8 (22%) had a recorded strabismus family history. CONCLUSIONS: Unlike unilateral Duane syndrome, bilateral Duane syndrome may be more common in males and associated with a higher prevalence of strabismus in primary gaze position. The prevalences of amblyopia, positive strabismus family history, and associated congenital abnormalities in this series of bilateral cases is similar to the reported prevalence.
Duane retraction syndrome has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia. A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.
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OBJECTIVE: To characterize the molecular genetics of clinically diagnosed recessive cornea plana in the Kingdom of Saudi Arabia and establish the presence of common or limited founders (ancestors who originally harbored the disease-causing mutation) in the country's historically isolated population. DESIGN: Prospective interventional case series. PARTICIPANTS: Twelve affected patients from apparently unrelated Saudi Arabian nuclear families with clinically diagnosed recessive cornea plana. METHODS: Clinical ophthalmic examination and venous blood sampling for DNA sequencing. MAIN OUTCOME MEASURES: Age, gender, keratometry, best-corrected visual acuity, ocular alignment, cycloplegic refraction, significant findings of a complete ophthalmic examination, and keratocan gene (KERA) haplotype analysis. RESULTS: All 12 individuals had classic phenotypic features of recessive cornea plana and were homozygous for 1 of 2 KERA mutations--a novel frameshift mutation (1634delC) or a previously reported nonsense mutation (R313X). Haplotype analysis was consistent with a separate distinct common founder effect for each instance. An additional Saudi KERA mutation (R279X) has been reported previously in one family. CONCLUSION: Specific for mutation in KERA, the ophthalmic phenotype of recessive cornea plana does not significantly vary with different KERA mutations. The occurrence of a rare inherited disease in a historically isolated population is not always due to a single common founder effect; it may be explained by cultural preferences such as consanguinity (intrafamilial marriage) and endogamy (intratribal marriage), which enhance expression of recessively inherited diseases.
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PURPOSE: To report the development of corneal ectasia and hydrops in a patient with autosomal recessive cornea plana. METHODS: Retrospective observational case report. RESULTS: A 16-year-old male with a prior diagnosis of autosomal recessive cornea plana who complained of unilateral visual loss of one month's duration was found to have corneal edema consistent with resolving hydrops in the affected eye. The edema resolved over time, and keratometry revealed high astigmatism in both eyes despite documentation of no significant corneal astigmatism 11 years before. Slit-lamp examination confirmed corneal thinning in both eyes corresponding to the meridian of the astigmatism. The prior diagnosis of cornea plana was confirmed by molecular genetic testing. CONCLUSIONS: Although not a characteristic finding of cornea plana, corneal ectasia can rarely occur and be associated with corneal hydrops.
BACKGROUND: Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES). Thought to be due to a contiguous gene syndrome, the recognizable phenotype of 3q interstitial deletion includes BPES facies and has not been associated with other loci. OBJECTIVE: To describe a familial syndrome that resembles the interstitial deletion of 3q clinically, but does not map to the FOXL2 region. METHODS: Clinical evaluation of family members and linkage analysis. RESULTS: Three affected siblings with a phenotype resembling that seen in 3q interstitial deletion were studied in addition to their clinically unaffected parents. Linkage analysis excluded FOXL2 as underlying the distinct phenotype, observed with > 99% confidence. CONCLUSIONS: The relevant locus in the current family, although remote from FOXL2, is likely important to the FOXL2 functional pathway. The phenotype observed in 3q interstitial deletion may be due to severe disruption of FOXL2 rather than to a contiguous gene syndrome.
PURPOSE: To report the cosmetic and therapeutic use of corneal tattooing for a child with sectoral traumatic corneal scarring and symptomatic glare from sectoral traumatic iris loss. DESIGN: Interventional case report. METHODS: A six-year-old girl underwent corneal tattooing (platinum chloride reduced by hydrazine) in the relevant scarred corneal sector. RESULTS: Six months after the procedure, the child enjoyed a more normal corneal appearance and no longer suffered from glare. Postoperative epithelial healing, however, was slow and required vigilance. CONCLUSIONS: Corneal tattooing can allow both cosmetic and therapeutic benefit when indicated in a child. However, postoperative healing may require management when using platinum chloride reduced by hydrazine.
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