Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle.

We report for the first time a child with incontinentia pigmenti presenting with acute-onset rhegmatogenous retinal detachment in association with pre-existing tractional retinal detachment. Due to the combined nature of this detachment, complex vector forces acting on the retina makes this a difficult to treat situation. A single surgery of modified scleral imbrication with scleral buckle was effective in reattaching the retina by providing a very high buckle indent to accommodate all the complex vector forces. Commonly used procedure of vitrectomy and silicone oil usage was avoided as that often requires multiple surgeries and may result in variable and unpredictable response.

Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti.

PURPOSE: To describe the clinical features and treatment outcomes of severe retinopathy in eyes with incontinentia pigmenti (IP) of infants within a few months of birth. STUDY DESIGN: Retrospective clinical study. METHODS: Six eyes of three patients (6-day-old girl, 5-month-old girl, and 14-day-old boy) with IP were examined and treated under general anesthesia. Ophthalmologic examinations were performed including images from wide-angle fluorescein angiography (FA), swept-source optical coherence tomography (OCT), and OCT angiography (OCTA). RESULTS: Ophthalmoscopy showed prominent vascular tortuosity in five eyes, retinal hemorrhages in four eyes, and incomplete vascular development in two eyes. FA showed extensive avascularity including the posterior pole of the retina in all cases except one eye. Prompt and intensive laser photocoagulation stabilized the pre-proliferative severe retinopathy in five eyes; however, foveal structure and vessel anomalies were detected in three of six eyes by OCT and two of five eyes by OCTA. CONCLUSION: Severe retinopathy in the neonatal period and infancy was present not only in the periphery but also in the posterior pole including the fovea, which might be related to retinal vascular maldevelopment. It is, therefore, recommended that wide-angle fundus FA examination be performed in the early postnatal period to detect early signs of severe retinopathy in infants with IP.

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry of this condition in both eyes and associated retinal problems. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects.

PURPOSE: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. METHOD: Patient management and rehabilitation programs from birth to the last follow-up. RESULTS: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. CONCLUSION: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living. IMPLICATIONS FOR REHABILIATION: Incontinentia pigmenti (Bloch-Sulzberger syndrome). Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement. Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation. In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child's physical development and personal needs.

Ophthalmic evaluation, treatment, and follow-up of two cases of incontinentia pigmenti / Avaliação oftalmológica, tratamento e seguimento de dois casos de incontinentia pigmenti

Incontinentia pigmenti (IP) is an X-linked dominant disorder affecting the skin, teeth, eyes, and central nervous system. Ocular changes are common and may lead to severe vision loss. We report on the ocular manifestations in two young girls with IP, with emphasis on the asymmetry of this condition in both eyes and associated retinal problems. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

Incontinentia pigmenti (IP) é uma desordem ligada ao X dominante afetando a pele, dentes, olhos e sistema nervoso central. Alterações oculares são comuns e podem levar a severa perda visual. Nós relatamos manifestações oculares de duas jovens pacientes com IP, enfatizando a assimetria da condição em cada olho e também alterações retinianas que possam ocorrer. Tratamento a laser na periferia isquêmica da retina gera bons resultados e estabiliza a visão.

[Staged correction of spinal deformity in a patient with incontinentia pigmenti syndrome].

Case presentation of staged surgical treatment of patients with spinal deformity in incontinentia pigmenti syndrome. As a result of surgical procedure proper sagittal balance of the body was restored.

Corneal abnormalities in incontinentia pigmenti: histopathological and confocal correlations.

PURPOSE: To describe the clinical presentation and histopathologic and confocal correlations in a case of incontinentia pigmenti (IP)-associated whorllike corneal epitheliopathy. METHODS: We describe the case report of a 22-year-old woman with IP and bilateral whorllike corneal epitheliopathy, with symptomatic dry eye complaints. Slit-lamp and confocal microscopic imaging confirmed that the pathology was restricted entirely within the epithelial layer. The cornea was debrided with the hopes of alleviating symptomatic eye complaints. The excised tissue was analyzed by standard light microscopy and transmission electron microscopy. RESULTS: In vivo confocal microscopic imaging (ConfoScan 3; Nidek, Fremont, CA) of both eyes showed the presence of multiple bright, round objects approximately 7-20 microm in diameter and located entirely within the epithelial layer. Hematoxylin-eosin-stained sections of the debrided tissue showed a mild disorganization of the overall epithelial architecture. Transmission electron microscopy noted various degrees of degenerating nuclei. The corneal epithelial defect of the patient's left eye healed by the fourth postoperative day. The new epithelium appeared normal, but at the 1-month examination, there was recurrence. CONCLUSIONS: Histomorphologic evaluation of the surgical specimen showed abnormal changes restricted to the epithelium in our patient. The observed changes are suggestive of a primary abnormality of cell maturation, which results in degeneration, and apoptosis as the epithelial cells migrate upward. The rapid recurrence of keratopathy clearly indicates that supportive treatment of blurred vision and secondary superficial punctate keratopathy with artificial tears, punctal plugs, and bandage contact lens are more likely to be beneficial.

Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti.

Incontinentia Pigmenti is a rare, X-linked, dominant disorder in which affected female infants develop characteristic abnormalities of the skin, central nervous system, hair, teeth, and eyes. Ocular abnormalities occur in about 35% of patients and consist of proliferative vitreoretinopathy, retinal detachment, strabismus, cataract, microphthalmia, optic nerve atrophy, and iris hypoplasia. Retinal vascular abnormalities, ranging from peripheral retinal avascularity to neovascular and fibrous proliferation with traction retinal detachment, are the primary cause of severe visual dysfunction in patients. Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. We report a case in which laser photocoagulation was used at the onset of retinopathy with subsequent resolution of the vasculopathy.

Ocular manifestations of genetic and developmental diseases.

Significant advances were reported this year in our understanding of the association of lens opacities with neurofibromatosis type 2 and the genetics of the aniridia-Wilms' tumor association. The first successful surgical reattachment of detached retinas in patients with incontinentia pigmenti are reported. An important retrospective review of young adults with congenital rubella syndrome implies that the timing of infection during gestation is not related to the incidence of individual ocular conditions. The ophthalmic features of the MELAS syndrome, a mitochondrially inherited encephalomyopathy, are described. Cytogenetic techniques are utilized for the first time to investigate the association between conjunctival and uveal melanomas with the dysplastic nevus syndrome. Familial Duane's syndrome and urogenital abnormalities were associated with a bisatellited marker derived from chromosome 22. Finally, another case of the newly described association of microphthalmia, dermal aplasia, and sclerocornea (MIDAS syndrome) is reported.

Retinal detachments in incontinentia pigmenti.

We report on retinal detachments in six eyes of four patients with incontinentia pigmenti. These nonrhegmatogenous traction retinal detachments are characterized by extensive preretinal and vitreous fibrous organization that pull the retina anteriorly behind the lens. The clinical course and fundus appearance of the retinal detachments, beginning with the avascular peripheral retina and leading to traction retinal detachment, are similar to those of cicatricial retinopathy of prematurity. Vitreous surgery was performed on three eyes (two patients), with partial reattachment of a total retinal detachment in one eye and complete reattachment of a partial retinal detachment in a second eye. These cases represent the first successful surgical interventions reported for retinal detachment in incontinentia pigmenti.