Degeneración esferoidea. Reporte de caso / Spheroidal degeneration. Case report

RESUMEN Se reportó el caso clínico de una fémina de 50 años de edad. Acudió a los Servicios de Oftalmología, del Hospital Provincial Comandante Faustino Pérez Hernández, de Matanzas. Refirió síntomas irritativos y disminución visual por el ojo izquierdo. El examen oftalmológico mostró en dicho ojo la presencia de lesiones esferoideas de color ámbar, conjuntivo corneales en periferia (horas 3-4 y 9). Se extendían en banda a la córnea central, algunas con aspecto nodular. En el ojo derecho presentaba lesiones similares pero localizadas mayoritariamente en la periferia corneal y conjuntiva horas 3 y 9. Con estos elementos se estableció diagnóstico clínico de degeneración esferoidea, enfermedad degenerativa corneal poco frecuente y generalmente asintomática siempre que no progrese y afecte la visión. Se aplicó como tratamiento una queratectomia superficial, manual, con colocación de una lente de contacto terapéutica en el ojo izquierdo, sin complicaciones. Hubo regresión de los síntomas irritativos y mejoría de la agudeza visual constatada en las consultas de seguimiento. Se recomendó la necesidad de protección solar al constituir las radiaciones ultravioletas un factor de riesgo de importancia en el desarrollo de esta enfermedad.

ABSTRACT The authors reported the case of a woman, aged 50 years, who assisted the Ophthalmology service of the Provincial Hospital "Comandante Faustino Pérez Hernández", of Matanzas. She referred irritant symptoms and left eye visual decrease. The ophthalmologic examination showed the presence of amber-color spheroidal lesions, corneal conjunctives in periphery (3-4 and 9 hours) in that eye. They extended in bands to the central cornea, some of them with nodular aspect. There were similar lesions in the right eye, but they were located mainly corneal and peripheral conjunctive hours 3 and 9. With these elements it was established the clinical diagnosis of spheroidal degeneration, a few frequent corneal degenerative disease that is almost always asymptomatic if it does not progress and affects sight. As a treatment the patient underwent a manual, superficial keratectomy with location of therapeutic contact lens without complications. There it was a regression of the irritant symptoms and an improvement of the visual acuity stated in the follow-up consultations. The patients was recommended sun protection because ultraviolet rays are important risk factors in the development of this disease.

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.

Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations. Materials and Methods: A 45‑year‑old female, presenting with bilateral decreased vision since childhood that deteriorated in the last 5 years, was evaluated to rule out trauma, viral illness, chemical injury, glaucoma, and corneal endothelial dystrophies. Tear sample was sent for herpes simplex viral (HSV) antigen testing. Genomic DNA from peripheral blood was screened for mutations in all exons of SLC4A11 by direct sequencing. Full‑thickness penetrating keratoplasty was done and corneal button was sent for histopathological examination. Results: Slit‑lamp findings revealed bilateral diffuse corneal edema and left eye spheroidal degeneration with scarring. Increased corneal thickness (762 μm and 854 μm in the right and left eyes, respectively), normal intraocular pressure (12 mmHg and 16 mmHg in the right and left eyes, respectively), inconclusive confocal scan, and specular microscopy, near normal tear film parameters, were the other clinical features. HSV‑polymerase chain reaction was negative. Histopathological examination revealed markedly thickened Descemet’s membrane with subepithelial spheroidal degeneration. SLC4A11 screening showed a novel variant p.Ser415Asn, reported mutation p.Cys386Arg and two polymorphisms, all in the heterozygous state and not identified in 100 controls. Conclusions: The study shows, for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease.