Paramacular Von Hippel angioma with tractional macular detachment

A rare case of paramacular angioma with tractional macular detachment that was managed successfully with laser, followed by surgical intervention with good visual outcome, is presented. A 23-year-old female patient with paramacular Von Hippel angioma was treated with argon laser photocoagulation. Three-months following photocoagulation, vitrectomy with epiretinal tractional membrane removal was attempted successfully. Visual acuity improved from a preoperative level of 20/200 to 20/50 at the 6 months postoperative period. No recurrence of epiretinal membrane or exudation was observed during the follow-up period. Photocoagulation, followed by surgical intervention for removal of epiretinal traction membranes, resulted in relieving the tractional macular detachment and recovering useful visual acuity in paramacular Von Hippel angioma.     

Ocular coloboma

Ocular coloboma is common malformation which includes a spectrum of anomalies that ranges from iris coloboma to clinical anophthalmos. Coloboma is etiologically heterogeneous. As an isolated defect, it is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Patients with multiple malformations and coloboma may have a recognized malformation syndrome of unknown etiology, a single gene disorder, or chromosomal abnormality. Prognosis and recurrence risk can be determined only after complete evaluation of the patient and other family members.     

Macular coloboma

Macular coloboma is a congenital retinochoroidal defect of the macular region. It is a bilateral, nonprogressive condition that is associated with decreased visual acuity and nystagmus. A case of a 14-year-old boy with an unusual presentation of extensive macular colobomata is described. Location of the lesions differentiated this case from true or typical retinochoroidal colobomata. Differential diagnosis also includes postinflammatory scarring.     

Renal coloboma syndrome

OBJECTIVE: To characterize the ocular features of renal coloboma syndrome. DESIGN: Prospective, observational case series. PARTICIPANTS: Twelve patients referred by the pediatric nephrology clinic and the ophthalmic records of five additional patients. METHODS: For each patient, age at the time of examination, gender, renal function, and presence of a mutation in the PAX2 gene were noted. All patients underwent measurement of visual acuity and anterior and posterior segment examination with fundus photography. Goldmann visual fields were tested in four cases. MAIN OUTCOME MEASURES: Visual acuity, optic disc abnormalities, and mutation in the PAX2 gene. RESULTS: Mean age was 21.5 years. Renal failure was mild in 6 patients and severe in 11 patients. A mutation in the PAX2 gene was identified in nine patients, without correlation to the ocular phenotype. Ocular features could be divided into five groups: optic disc dysplasia limited to an unusual pattern of retinal vessels without functional consequence; optic disc pit with normal visual acuity and blind spot enlargement; large optic disc coloboma; large coloboma of the optic disc and adjacent retina; morning glory anomaly (these last three conditions were accompanied by poor visual acuity). Fundus abnormalities were symmetrical in most cases and unrelated to renal status. CONCLUSIONS: Ophthalmic and renal characteristics of the renal coloboma syndrome are highly variable. The need for dialysis or renal transplantation can occur early in life or several years later. A wide range of ocular abnormalities located in the posterior segment can be observed. Mild optic disc dysplasia or pit have no functional consequence and can be underdiagnosed. More severe colobomas or related abnormalities, such as morning glory anomaly, often lead to poor visual acuity. Molecular biology allows detection of the mutations in the PAX2 gene, but can be negative in approximately 50% of cases. The observation of an optic disc coloboma or related abnormality stimulates the ophthalmologist to propose simple nephrologic investigations to check for renal hypoplasia, a potentially life-threatening disease. Conversely, renal hypoplasia stimulates the nephrologist to ask for a fundus examination to confirm the diagnosis and check for complications such as retinal detachment.     

Management of retinal detachment with choroidal coloboma.

Seventeen eyes with retinal detachment secondary to retinal breaks in the colobomatous area were managed by vitrectomy procedures. Endodrainage was done through the break in the colobomatous area, with simultaneous fluid-air exchange. Endolaser photocoagulation was performed along the colobomatous margin posteriorly, while the anterior portion was treated by transscleral cryopexy. Silicone oil was then exchanged with air. In nine cases, the silicone oil had to be removed for complications such as emulsification, glaucoma, and keratopathy; in three of these eyes, oil removal resulted in recurrent retinal detachment. At the 2-month follow-up visit, there was 100% anatomic success, and 12 eyes (70.6%) recovered visual acuity of 10/200 or better. Of the 11 eyes with follow-up of more than 6 months, in 9 (81.8%) the retina remained reattached at last-follow up, and in 6 eyes (54.5%) a visual acuity of 10/200 or better was obtained.     

Two cases of coloboma associated with unbalanced translocations.

Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.     

Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy.

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.     

Congenital upper lid coloboma

Twenty-two patients with congenital upper lid colobomas were assessed. Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media. A traction test is strongly recommended early in all children with congenital upper lid colobomas. A lateral cantholysis and direct closure was the commonest type of surgery, but unless the coloboma closed easily a lower lid rotation flap gave the best results.     

Nasopalpebral lipoma coloboma syndrome

Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.     

Retinoblastoma in an eye with congenital uveal coloboma.

Retinoblastoma and congenital ocular abnormalities rarely coexist. The appearance of an intraocular tumor in a child with preexisting leukokoria may make the diagnosis of retinoblastoma more challenging. This report describes a unique case of unilateral congenital uveal coloboma and ipsilateral retinoblastoma in a patient with no family history of either abnormality and normal cytogenetic analysis.     

Typical ocular coloboma affects three generations in one family.

We found bilateral colobomas of the iris, choroid, retina, and optic nerve head in a son, mother, and grandmother in one pedigree. This represents a rare incidence of typical ocular coloboma in three generations.     

Retinochoroidal coloboma and subretinal neovascularization

Subretinal neovascularization associated with retinochoroidal coloboma is rare. To the authors' knowledge, only three cases have been reported. We report a new case of isolated subretinal neovascularization and coloboma in a 26-year-old woman without other causes of choroidal neovascularization. Only the disruption of the normal retinal anatomy could explain the development of this subretinal neovascularization.     

Retinal dystrophy and macular coloboma

Seven cases of retinal dystrophy associated with bilateral macular colobomata are presented. Two separate entities were found. The first is a congenital onset pigmentary retinopathy similar in electrophysiologic findings and symptoms to typical Leber's congenital amaurosis; the second appears to be a form of pregressive cone-rod dystrophy with pigmentary retinopathy. Review of the pertinant literature and clinical evidence suggest that both conditions are distinct entities inherited in the autosomal recessive manner.