Macular features of pediatric surgical vitreoretinal diseases

Tawansy, K.A.

doi:10.1016/s0896-1549(02)00056-1

Cited by 3 publications

(5 citation statements)

References 112 publications

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“…It is believed that changes in retinal vasculature and in RPE are involved in the cascade of pathological events affecting the retina. 33 The ischemic process and subsequent angiogenic response are slightly similar to those of prematurity retinopathy. 34 …”

Section: Ophthalmologic Findingsmentioning

confidence: 89%

Incontinentia pigmenti

Poziomczyk

Recuero

Bringhenti

et al. 2014

An. Bras. Dermatol.

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Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

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Section: Ophthalmologic Findingsmentioning

confidence: 89%

Incontinentia pigmenti

Poziomczyk

Recuero

Bringhenti

et al. 2014

An. Bras. Dermatol.

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“…5,6 Cockayne syndrome is an autosomal recessive disorder characterized by hypersensitivity to sunlight, dwarfism, senile appearance, progressive loss of muscle and subcutaneous tissue, microcephaly, psychomotor (mental and motor) retardation, thin hair, joint contractures, beaklike nose, hearing loss, progressive pigmentary retinopathy, and cataracts. 7 We report Cockayne syndrome type B in a large consanguineous Turkish family whose six affected individuals had variable clinical findings without photosensitivity.…”

Section: Severe Form Of Cockayne Syndrome With Varying Clinical Presementioning

confidence: 95%

“…6 At the cellular level, current theories suggest that X-linked juvenile retinoschisis results from a defect in the Müller cell, the retina's glial cell. 7 We report an affected family of Western European ancestry with Xlinked juvenile retinoschisis that carries a 304C©T XLRS1 mutation but has an unusually consistent mild phenotype. Genetic counseling for those identified as affected males and carriers was performed, and quality-of-life issues were investigated.…”

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confidence: 90%

Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis

2006

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X-linked juvenile retinoschisis is a rare progressive vitreoretinal degenerative process that appears in early childhood, results in decreased visual acuity and blindness (if severe), and is caused by various mutations within the XLRS1 gene at Xp22.2. We report an affected family of Western European ancestry with X-linked juvenile retinoschisis. The family was found to carry a 304C-->T substitution in exon 4 of the XLRS1 gene, resulting in an Arg102Trp amino acid substitution. Two of the four available clinical cases in this family were found to carry the mutation. All available mothers of affected males were found to be unaffected carriers of the mutation, a typical feature of X-linked diseases. Two new female carriers, sisters of affected males, were identified and counseled accordingly. Questionnaires on visual functioning were given to the affected family members to examine the psychologic and sociologic impact of X-linked juvenile retinoschisis, which documented an associated stigma even when affected with a "mild" phenotype.

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“…55 In cases of only partial retinal detachment, surgical intervention may be attempted. 55 Elevated intraocular pressure resulting in pain must be managed and may occasionally require enucleation. Referral for auditory, neurologic, and genetic evaluation is recommended.…”

Section: Treatmentmentioning

confidence: 99%

“…Surgical management with scleral buckling or vitrectomy may be required in cases of tractional retina detachment. 55 …”

Section: Treatmentmentioning

confidence: 99%