Corneal anomalies in newborn primary congenital glaucoma.

This report describes the corneal pathology in an infant with newborn primary congenital glaucoma and discusses whether these findings could be due to a developmental anomaly. The corneal specimen of a 4-month-old infant with newborn primary congenital glaucoma and cloudy corneas who had undergone penetrating keratoplasty was evaluated by light and electron microscopy. Light microscopy showed a thinned epithelium, areas of thickened Bowman's layer (approximately 27 mum thick) interspersed with nuclei, and a thickened and disorganized stroma. Descemet's membrane was intact, and the endothelium was mildly attenuated. The corneal changes seen in this patient may be specific to primary congenital glaucoma and may contribute to the corneal clouding seen so frequently in these patients.

Boston keratoprosthesis in epithelial downgrowth.

INTRODUCTION: To report a case of histologically proven epithelial downgrowth after multiple failed penetrating keratoplasties and glaucoma filtering surgeries that was successfully treated with Boston keratoprosthesis implantation. MATERIALS AND METHODS: A 61-year-old monocular patient had severe congenital ocular syphilis with secondary glaucoma. He had undergone many intraocular surgeries with a history of epithelial downgrowth, and he presented with a failed graft after 7 penetrating keratoplasties. Implantation of a corneal graft with an aphakic type of Boston keratoprosthesis was performed, combined with anterior vitrectomy. The main outcome measures were visual acuity, ocular inflammation and media clarity. RESULTS: Media clarity was restored and revealed severe retinal scarring and a pale optic nerve. Best corrected visual acuity of 20/400 was maintained without any further surgical intervention during 6 years follow up. No retroprosthesis membrane or epithelial growth behind the keratoprosthesis was observed. DISCUSSION: This is, to our knowledge, the first case of long-term successful treatment of epithelial downgrowth with a Boston keratoprosthesis. This approach might be considered a suitable treatment of epithelial downgrowth.

Complications of cosmetic iris implants.

Cosmetic intraocular iris implants for the purpose of changing iris color have recently been developed; however, little is known about their safety. We report a patient who had bilateral implantation of colored silicone iris implants solely for cosmetic reasons. The rapid development of uveitis, corneal decompensation, and ocular hypertension resulted in the need for explantation of the implants. Placement of these devices should require specific medical indications and meticulous surgery with early and long-term evaluation.

Endocrine mucin-producing sweat gland carcinoma of the eyelid.

A 70-year-old woman was examined for a 4-mm bluish nodule in the left upper eyelid. The lesion was excised and pathology showed it to be endocrine mucin-producing sweat gland carcinoma with positive margins. She underwent Mohs surgery and reconstruction of the resulting defect. Clinicians should be aware of this entity given its association with invasive mucinous adenocarcinoma, a locally aggressive tumor with metastatic potential.

Juvenile conjunctival nevus: clinicopathologic analysis of 33 cases.

Conjunctival nevi in children and adolescents often have histologic features that can be difficult to differentiate from malignancy. We have identified a subset of childhood nevi displaying a confluent growth pattern and a lack of maturation that we have defined as juvenile conjunctival nevi (JCN), with the aim of further describing the clinicopathologic features of these lesions. Lesions identified as conjunctival nevus in a tertiary referral hospital were reviewed and the subset of lesions identified as JCN were further evaluated. Clinical details including follow-up data were also gathered. Of the 40 conjunctival nevi identified, 33 fit the criteria for JCN. The mean age at time of excision was 10.9 years (range: 4 to 19 y). Thirty-two lesions were of the compound type; one was a junctional nevus. All showed a nested junctional growth pattern. In 17 lesions (61%), the junctional component extended beyond the subepithelial component (shoulder phenomenon). Maturation was absent in 21 of the compound nevi (66%, average age 10.3 y), and incomplete in the remaining 11 lesions (34%, average age 12.1 y). The nuclei of the subepithelial nevus cells were larger than the epithelial nevus cells in 19 nevi (59%) and the same size in 13 (41%). A lymphocytic host response was present in 17 lesions (52%). Mitotic figures were rarely seen. None of the lesions had recurred over an average follow-up period of 34 months. Recognition of JCN as a distinct morphologic variant of a conjunctival nevus with characteristic histologic features may help to distinguish this benign lesion from melanoma.

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

PURPOSE: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG). METHODS: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced. RESULTS: We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. Every patient had one or two mutations identified. Of the missense mutations, 4 affected residues were in the amino terminal region of the protein, and two in the pore region. CONCLUSIONS: KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod ERG.

Orbital apex syndrome secondary to Pseudallescheria boydii fungal sinusitis in an immunocompetent patient.

Orbital apex syndrome secondary to mucormycosis in immuno-compromised patients is well described; however, few reports exist of a paranasal sinus mycetoma resulting in this presentation in the immuno-competent patient. The case is reported of a 92-year-old man who developed orbital apex syndrome secondary to a sphenoidal sinus mycetoma of Pseudallescheria boydii.

Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients.

OBJECTIVE: To describe the natural history of optic pathway gliomas (OPGs) in patients with neurofibromatosis type 1 (NF1), and to evaluate the current recommended guidelines for monitoring and follow-up of OPGs in this population. DESIGN: Retrospective case series. PARTICIPANTS: Patients with OPGs and NF1 seen in the neurofibromatosis clinic at the Children's Hospital at Westmead in Sydney, Australia. METHODS: Patients with definite NF1 and confirmed OPGs were identified and their medical records searched to obtain data on demographics, details of the OPG diagnosis, and serial ophthalmic examination findings. Patients were stratified into groups according to age and mode of presentation. MAIN OUTCOME MEASURES: Visual acuity was recorded for each eye and grouped into mild (Snellen equivalent > or = 6/12), moderate (Snellen equivalent = 6/15-6/60), and severe (Snellen equivalent < 6/60) visual impairment at time of diagnosis, during follow-up, and at the most recent examination. RESULTS: Data were collected on 54 patients, the majority of whom (78%) were seen from 1990 to 2002, with an average follow-up of 8.6 years. The mean age at the time of OPG diagnosis was 5.2 years, with 32 patients having symptoms or signs at the time of diagnosis. Seventeen patients were diagnosed after the age of 6 years (range, 7-15). Twenty-two patients had tumor progression within 1 year of diagnosis, and a further 6 patients showed progression after 1 year. Most patients' conditions were managed conservatively (68.5%). At follow-up, 17 patients (31.5%) had severe visual impairment (<6/60 Snellen equivalent) in their worse eye, and 16.7% had bilateral moderate/severe visual impairment. CONCLUSIONS: Contrary to some previous reports, our results show that OPGs in patients with NF1 often present in older children and may progress some time after diagnosis. Given the potential for serious visual consequences, these findings indicate a need for regular ophthalmological monitoring of this population for a long duration.

Absence of change in choroidal nevi across 5 years in an older population.

OBJECTIVE: To determine the proportion of choroidal nevi that were previously identified in a population cross section and that showed evidence of growth or progression during a 5-year period. METHODS: The Blue Mountains Eye Study was a cohort study of residents 49 years and older living in an area west of Sydney, Australia. Retinal photographs were used to identify choroidal nevi. Repeat photographs were obtained 5 years later and graded side-by-side to ascertain clinical growth or progression of all identified nevi. The greatest diameter and surface area of each nevus were measured. Nevus growth was defined as an increase in size of at least 33%. RESULTS: There were 160 choroidal nevi identified in the 128 subjects with nevi who participated in both eye examinations. Only 1 nevus (0.6%) exhibited clinical growth during the 5 years. No nevi developed other indicators of progression, such as subretinal fluid or orange pigment accumulation. CONCLUSIONS: Findings from this study indicate that benign nevi in older persons rarely progress. Regular eye examinations may be unnecessary for clearly defined small nonsuspicious choroidal nevi. This information could relieve patient anxiety and reduce costs associated with regular monitoring of nevi.

Five-year outcome of correctable visual impairment: the Blue Mountains Eye Study.

This report aims to describe the outcome and socio-economic characteristics of older persons attending the Blue Mountains Eye Study (BMES) with persistent correct-able visual impairment (VI). The BMESI examined 3654 persons aged 49+ during 1992-1994 and re-examined 2335 survivors during 1997-1999 (BMES II). Visual acuity was measured before and after standardized refraction. Participants had correctable VI if their better eye was visually impaired <6/12 before refraction (with distance glasses if worn) and was unimpaired after refraction. In BMES I,274 persons (7.5%) had correctable VI, of whom 127 returned to BMES II. Of this group of 127, 34 had persistent correctable VI and 74 were no longer impaired. Fewer persons with correctable VI returned and more died prior to BMES II, compared to persons with no or non-correctable VI. This study showed that persistent correctable impairment was more frequent with increasing age, among women, in those living alone, using community support services,or with a history of heart disease.