Shprintzen-Goldberg syndrome: a clinical analysis.

Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later.

Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia).

Eight patients with Alagille syndrome (AGS) are reported. In addition to previously reported findings of posterior embryotoxon, pigmentary retinopathy, and choroidal folds, new findings include decreased axial eye lengths, small corneal diameters, and shallow anterior chambers. Optic disc swelling was noted ophthalmoscopically and abnormally increased orbital subarachnoidal fluid was detected through measurements of the arachnoidal diameters with standardized echography.

Heritable retinoblastoma and pinealoma.

A fourth case of bilateral retinoblastoma (RB) associated with pinealoma was identified among 56 patients with heritable RB. Using life-table analysis, the association was 5.6% 2 years after RB diagnosis.

Congenital macronodular juvenile xanthogranuloma of the eyelid.

A large congenital eyelid mass prevented an infant from elevating his eyelid successfully. A small punch biopsy was initially interpreted as "consistent with a dermatofibrosarcoma protuberans." On the basis of this diagnosis, radical surgery was advised.

Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia.

We studied a four-generation family with early-onset autosomal dominant retinitis pigmentosa, severe hyperopia, and axial eye lengths of less than 20 mm. The affected members had decreased vision, night blindness, typical peripheral retinal pigmentary changes, and electroretinographic abnormalities characteristic of retinitis pigmentosa. This pedigree suggests there is another variant of retinitis pigmentosa associated with hyperopia besides Leber's congenital amaurosis and preserved para-arteriole retinal pigment epithelium.

Visual prognosis in macular retinoblastomas.

Since 1979, we have treated 11 patients who had macular retinoblastomas. Two patients eventually recovered 20/20 visual acuity despite the presence of subretinal fluid in the fovea at the time of diagnosis. The diagnosis was made at 11 and 14 months of age, and follow-up periods were ten and seven years, respectively.

Chorioretinal degeneration in infantile malignant osteopetrosis.

We studied two patients who had infantile malignant osteopetrosis, severe visual loss, and diminished electroretinogram amplitudes with visible macular chorioretinal degenerative changes. The findings support the hypothesis that a subgroup of patients with infantile malignant osteopetrosis exists in whom the visual loss is caused by a primary retinal degeneration that may be associated with generalized central nervous system neuronal degeneration.

[Severed musculus rectus internus caused by a dog bite].

A four-year-old girl sustained facial injuries from multiple dog bites. Although the globe exhibited slight adduction saccades the medial rectus muscle appeared to be intact when examined by computer tomography. However, on surgical exploration of the orbit the muscle parenchyma was found to have been completely severed.

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia.

Seven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling.

Post-radiation retinal infiltrates simulating recurrent retinoblastoma: a clinical and pathologic case report.

An 8-month-old boy was found to have a sporadic unilateral stage IIa retinoblastoma, extending inferiorly and temporally from the right fovea. Within 5 weeks of diagnosis the tumor was treated with 4500 rads fractionated over 20 treatments. Examination under anesthesia (EUA) 1 month later revealed unequivocal clinical and echographic evidence of tumor regression.

Pupillary constriction to darkness.

Patients with congenital achromatopsia and congenital stationary night blindness have been known to show a transient pupillary constriction to darkness. We examined 50 normal subjects and 108 patients with retinal and optic nerve dysfunction to see if any had an initial pupillary constriction to darkness. We used a new infrared television apparatus.

Megalocornea: a clinical and echographic study of an autosomal dominant pedigree.

A family with autosomal dominant megalocornea was studied clinically and echographically. The anterior chamber angles, intraocular pressures and axial lengths were all normal. These findings strongly support the dualist proposition which contends that etiologically, megalocornea and congenital glaucoma are distinct.

Orbital hypotelorism. An isolated autosomal dominant trait.

Four patients from three consecutive generations of a family with ocular hypotelorism are described. Radiographs document a subnormal distance between the medial orbital walls. To our knowledge, this is the first report of heritable isolated orbital hypotelorism.

Abetalipoproteinemia. Report of an unusual patient.

Abetalipoproteinemia (Bassen-Kornzweig syndrome, acanthocytosis) was diagnosed at age 13 months in a black male. At age 13 months, the electroretinogram was nonrecordable and a pigmentary retinopathy was obvious with ophthalmoscopy. Following dietary modification and vitamin supplementation, the scotopic electroretinogram improved to about 30% of normal.

Central areolar pigment epithelial dystrophy.

7 affected and 4 normal individuals from three consecutive generations of a family with central areolar pigment epithelial dystrophy were examined. The pedigree was indicative of an autosomal dominant disorder with variable expression. The macular changes varied from numerous small drusen-like defects to large colobomatous appearing lesions while the visual acuities ranged from 6/4 to 3/120.

Four generations of arteriohepatic dysplasia.

Arteriohepatic dysplasia (AHD) is a multisystem disorder which is characterized by liver, heart, eye, and bony abnormalities. A characteristic facies is also present. The etiology is not clear, and some authors have favored an in utero toxin or infection as the cause.

Ocular findings in arteriohepatic dysplasia (Alagille's syndrome).

The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia.

Chorioretinopathy and pituitary dysfunction. The CPD syndrome.

Four reports of a rare syndrome characterized by severe, early-onset chorioretinopathy, trichosis, and evidence of pituitary dysfunction are reviewed. Recently obtained follow-up information about these four patients is presented. A new example of this disease, the fifth case to be reported, to our knowledge, is described.

Orbital cellulitis in an infant secondary to Coats' disease.

An 8-week-old infant had advanced Coats' disease. Six months after the Coats' disease was noted, a severe, secondary orbital cellulitis developed.

Retinoblastoma. A survivor 12 years after treatment for metastatic disease.

A 21-year-old man currently is well 12 years after his last treatment for metastatic retinoblastoma.