Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion. B-mode ultrasound showed a smooth, cupuliform and cystic elevation characteristic of acquired retinoschisis, and fluorescein angiography could rule out the presence of a vascular tumor. The hypoautofluorescence of the lesion determined the depigmentation of the CHRPE, while the slight perilesional hyperautofluorescence corresponded to the associated retinoschisis and DM. This is the first case described in the literature of an acquired retinoschisis associated with CHRPE.

Hipertrofia congénita del epitelio pigmentario de la retina asociada a retinosquisis adquirida y degeneración microquística: La importancia del estudio con imagen multimodal / Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging

Presentamos un caso clínico ilustrado con representación multimodal de una hipertrofia congénita del epitelio pigmentario de la retina (HCEPR) despigmentada asociada con una retinosquisis adquirida y a una degeneración microquística (DM) en una mujer hipermétrope de 64 años, asintomática. En la retinografía se evidenciaba una lesión blanquecina con bordes pigmentados, levemente sobreelevada, acompañada de un área inferior con patrón microquístico. Las pruebas complementarias realizadas permitieron determinar un diagnóstico de exclusión bien definido. La ecografía en modo B mostraba una elevación lisa, cupuliforme y quística característica de la retinosquisis adquirida, pudiendo descartar mediante la angiografía fluoresceínica la presencia de un tumor vascular. La hipoautofluorescencia de la lesión determinaba la despigmentación de la HCEPR, mientras que la tenue hiperautofluorescencia perilesional se correspondía con la retinosquisis y la DM asociadas. Se trata del primer caso descrito en la literatura de una retinosquisis adquirida asociada con una HCEPR.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion. B-mode ultrasound showed a smooth, cupuliform and cystic elevation characteristic of acquired retinoschisis, and fluorescein angiography could rule out the presence of a vascular tumor. The hypoautofluorescence of the lesion determined the depigmentation of the CHRPE, while the slight perilesional hyperautofluorescence corresponded to the associated retinoschisis and DM. This is the first case described in the literature of an acquired retinoschisis associated with CHRPE.

Surgical Management of Ocular Cicatricial Pemphigoid in a Pediatric Patient.

PURPOSE: The purpose of the report was to describe the first successful tarsal fracture surgery in a 1-year-old boy diagnosed with cicatricial ocular pemphigoid whose visual and psychomotor development were notably limited. METHODS: We present the case of a 1-year-old boy diagnosed with mucous membrane pemphigoid by biopsy who was treated with rituximab (375 mg/m 2 intravenous infusion at 2-week interval administered twice) and stable with oral dapsone (2 mg·kg -1 ·d -1 ). His eyelid cicatricial entropion and trichiasis in both eyes prevented him from opening his eyes, impeding visual development. After 1 year of clinical stability, we performed a tarsal fracture procedure in both eyes to restore eyelid anatomy and functionality, with the aim to prevent an inflammatory reaction, administrating intravenous dexamethasone before and after surgery. RESULTS: The intervention was successfully performed without postoperative complications. Excellent anatomic and functional results allowed him to develop normally in his daily life the first week after surgery. He is currently taking oral dapsone (2 mg·kg -1 ·d -1 ) as a maintenance treatment to stop the progression of the disease. CONCLUSIONS: Tarsal fracture surgery may be considered part of the treatment in pediatric patients with stable ocular cicatricial pemphigoid presenting with severe entropion and trichiasis.

Congenital hypertrophy of the retinal pigment epithelium associated with acquired retinoschisis and microcystic degeneration: The importance of multimodal imaging. / Hipertrofia congénita del epitelio pigmentario de la retina asociada a retinosquisis adquirida y degeneración microquística: La importancia del estudio con imagen multimodal.

We present an illustrated clinical case with multimodal representation of a congenital hypertrophy of the depigmented retinal pigment epithelium (CHRPE) associated with acquired retinoschisis and microcystic degeneration (MD) in a 64-year-old hypermetropic, asymptomatic woman. Retinography showed a whitish lesion with pigmented edges, slightly raised, accompanied by a lower area with a microcystic pattern. The complementary tests carried out allowed to determine a well-defined diagnosis of exclusion. B-mode ultrasound showed a smooth, cupuliform and cystic elevation characteristic of acquired retinoschisis, and fluorescein angiography could rule out the presence of a vascular tumor. The hypoautofluorescence of the lesion determined the depigmentation of the CHRPE, while the slight perilesional hyperautofluorescence corresponded to the associated retinoschisis and DM. This is the first case described in the literature of an acquired retinoschisis associated with CHRPE.