The educational impact of childhood-onset multiple sclerosis: Why assessing academic achievement is imperative.

BACKGROUND: Limited data suggest that adolescents with multiple sclerosis (MS) frequently discontinue school. While it is known that cognitive impairment occurs in 30% to 50% of children with MS, the functional impact of childhood MS on academic achievement is virtually unknown. OBJECTIVE: To that end, this paper builds an evidence-based argument for evaluating educational outcomes in children with MS. METHODS: This will be accomplished through (a) a review of pediatric MS and its cognitive consequences; (b) a selective review of the utility of neuropsychological batteries in assessing academic outcomes in pediatric populations in general; and (c) a brief overview of modifiable factors that have a potential benefit on school outcomes in children with MS. CONCLUSION: Scholastic achievement should be assessed as part of the routine cognitive screening of children and adolescents with MS.

Appearance of birdshot retinochoroidopathy in a patient with myelodysplasia syndrome.

PURPOSE: To report the appearance of birdshot retinochoroidopathy in a patient with myelodysplasia syndrome. METHOD: Case report of a healthy 62-year-old woman who was fortuitously noted to have multiple atrophic spots in the posterior choroid and retina of each eye. RESULT: Subsequent medical evaluation included a blood cell count that disclosed pancytopenia, with a diagnosis of myelodysplasia made on bone marrow examination. CONCLUSION: An autoimmune response associated with the underlying myelodysplasia may be responsible for the appearance of atrophic retinal and choroidal lesions resembling birdshot retinochoroidopathy.

Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis.

PURPOSE: To report the early ocular findings in hereditary amyloidosis. METHODS: Case report of a visually asymptomatic, 52-year-old Mexican man with systemic manifestations of amyloidosis (peripheral neuropathy, restrictive cardiomyopathy), with a positive family history, and with amyloid on an endomyocardial biopsy specimen, who had bilateral multifocal sheathing or cuffing of the peripheral retinal arterioles. RESULT: An extensive evaluation for retinal vasculitis was discontinued when hereditary amyloidosis was diagnosed. CONCLUSION: Focal retinal periarteriolar plaques of amyloid may be the earliest and only ocular finding of hereditary amyloidosis.

Central retinal vein occlusion and cilioretinal artery infarction.

PURPOSE/METHODS: The blood flow in the posterior ciliary and retinal vascular circulations was studied by fluorescein angiography in a patient with a central retinal vein occlusion and cilioretinal infarction. RESULTS/CONCLUSIONS: Fluorescein dye appeared in two cilioretinal arteries before the dye appeared in the retinal arterial circulation. This finding supports the concept of a relative hypoperfusion of the cilioretinal arteries secondary to increased retinal venous pressure.

Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome.

Four of five siblings born of a consanguineous marriage demonstrated abnormalities of the lens (ectopia lentis and dense cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment) associated with myopia. This association in an autosomal recessive pedigree has not been previously noted.

Bilateral choroidal osteoma in three siblings.

Three siblings (a sister and two identical-twin brothers) had bilateral choroidal osteomas. The sister was seen at 11 years of age, and the tumor showed significant growth two years later. The twin brothers' tumors were diagnosed at 9 years of age, and their conditions remained stable over two years except for a new, isolated lesion that occurred in one eye of one brother. The siblings' mother had a yellow mottling situated nasal to the disk in each eye that was similar in appearance to that in one eye of one of the twins. She showed no evidence of calcium on ultrasonography. The appearance of osteomas in three siblings suggests a choristoma as the cause of this tumor.

Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram.

We studied three members of three successive generations of a family with autosomal dominant congenital stationary night blindness and normal fundi. Psychophysical studies on two members showed normal final cone thresholds and mildly increased rod thresholds. Full-field electroretinograms on all three members showed normal photopic b-wave amplitudes and implicit times. Under scotopic conditions, the rod response was absent, and with a bright flash stimulus, there was a normal a-wave with no b-wave. This electronegative dark-adapted electroretinogram resembled the Schubert-Bornschein type seen in congenital stationary blindness, which has been seen only in autosomal and X-linked recessive pedigrees.

Peripapillary (pericentral) pigmentary retinal degeneration.

Three patients with peripapillary (pericentral) pigmentary retinal degeneration described in 1978 were examined over a follow-up period of nine to 13 years. There was no extension of the geographic pigmentary abnormalities. The affected areas worsened as evidenced by an increase in pigment abnormalities, focal choroidal atrophy as seen on fluorescein angiography, and a diminution of the electroretinographic responses. One patient had increasing disabling symptoms of nyctalopia and poor peripheral and central vision, whereas the other two patients remained asymptomatic with excellent central vision.

Hereditary pigmented paravenous chorioretinal atrophy.

Three male siblings, born of nonconsanguineous parents, manifested the characteristic paravenous bone spicule accumulation typically seen in pigmented paravenous chorioretinal atrophy. The wide range of fundus appearances was apparent. The electroretinogram confirmed a localized dystrophy, and an abnormal electro-oculogram in the least affected brother suggested a more widespread abnormality. The onset of the disorder in all three brothers was early in life (possibly congenital), and there was minimal, if any, progression. The mode of inheritance could not be established. Because some mildly affected individuals will be asymptomatic and have minimal fundus abnormalities, it is important to examine all family members when considering the diagnosis of pigmented paravenous chorioretinal atrophy.

Central pigmentary sheen dystrophy.

Three members from two successive generations demonstrated a bilateral, symmetric pigmentary maculopathy consisting of a diffuse yellowish sheen of the posterior pole. The visual acuity was variable (20/25 to 10/400) and visual function tests indicated a localized disorder. Historic information suggests the disorder is slowly progressive. On the basis of mode of inheritance, fundus and angiographic appearance, and visual function testing this appears to be a newly described disorder.

The golden tapetal sheen reflex in retinal disease.

A mother and son with dominant cone dystrophy manifested the retinal reflexes seen in Oguchi's disease (mother) and the carrier female of X-linked retinitis pigmentosa (son). Another patient with cone dystrophy (simplex) showed localized areas of a golden reflex in each eye. A patient with juvenile macular dystrophy exhibited a diffuse golden-orange reflex throughout the posterior pole. The latter two patients did not have the Mizuo phenomenon.

Progressive peripheral cone dysfunction.

A 22-year-old man had a three-year history of progressive day blindness, most notably peripherally, and denied difficulty with central vision or color vision. Visual function studies demonstrated a diffuse dysfunction of the photopic system and normal scotopic function. The central cone function, however, was essentially normal. Visual acuity was 20/20 in each eye, results on AO-HRR and Ishihara color plate testing were normal, color naming visual fields demonstrated color discrimination in the central 10 degrees, and foveal adaptation was normal.

Optic pit, microphthalmos and orbital cyst.

An orbital cyst was discovered by ultrasonography behind the globe of the left eye in a five-year-old boy with a left esotropia. In addition, an optic pit was present in the optic nerve head of the same eye, which was microphthalmic relative to the right eye. Although orbital cyst has been reported in the literature, this case is of interest because of the presence of two congenital anomalies in the same eye - namely, optic pit and orbital cyst. These two conditions have never been previously reported as existing together in the same eye.