Abstract
Background
Revesz syndrome is a rare type of the dyskeratosis congenita spectrum disorder that is characterized by nail dystrophy, oral leukoplakia, and abnormal skin pigmentation. The retinal features are similar to those of exudative retinopathy with avascular areas of the peripheral retina. There are only a few publications describing patients with Revesz syndrome who underwent ocular treatments for the retinal complications. We report a Case of Revesz syndrome with bilateral retinal detachments that were successfully reattached by pars plana vitrectomy.
Observations
A 3-year-old Japanese girl with Revesz Syndrome had progressive vitreal hemorrhages and tractional retinal detachments in both eyes. She underwent pars plana vitrectomy with lensectomy on both eyes. A retinal attachment with vision improvement was achieved by a single surgery for the right eye and after repeated surgeries for the left eye. Postoperative electroretinographic (ERG) examinations of the right eye showed a negative type ERG with the b-wave/a-wave ratio <1.0. There were extensive areas of avascular retina detected by fluorescein angiography and a thinning of the inner and outer retina detected by optical coherence tomography.
Conclusion and importance
Pars plana vitrectomy can effectively treat the extensive retinal detachment in an eye with Revesz syndrome. However, postoperative retinal ischemia can be detected by careful imaging.
1
Introduction
Revesz syndrome is a rare disorder that is the most severe type of inherited bone marrow failure disorder. It is characterized by abnormal shortening of the chromosomal telomeres, and is referred to as dyskeratosis congenita. Revesz syndrome has an autosomal dominant inheritance and is caused by mutations of the TINF2 gene. This gene encodes one of the six components of the telomere-associated shelterin complex that protects against a shortening of the telomeres. A shortening of the telomeres causes genomic instability and apoptosis of specific cell types that lead to abnormal growth of the bone marrow, skin, and retinal vasculature.
Revesz syndrome presents with a triad of abnormalities including nail dystrophy, oral leukoplakia, and abnormal skin pigmentation. In addition, exudative retinopathy, intracranial calcifications, and cerebellar hypoplasia are commonly present. , , The retinal features include avascular areas in the peripheral retina with telangiectatic vessels, arterio-venous anastomotic loops, neovascularizations, retinal exudates, and exudative and/or tractional retinal detachments. , So far, six cases of Revesz syndrome that underwent ocular treatments for the retinal complications have been reported. , We present our findings in a Case of Revesz syndrome with bilateral retinal detachments that were successfully treated by pars plana vitrectomy.
2
Case report
A 3-year-old Japanese girl was born at 36 weeks of gestation as a dizygotic twin. She was noted to have a mild intellectual disability that required medical interventions at 2-years-of-age. At the same age, purple spots were noted on the surface of her skin of her neck and extremities. Pancytopenia was detected by blood tests, and a diagnosis of an inherited bone marrow failure syndrome was made by analyses of a bone marrow specimen. She then underwent bone marrow transplantation from her unaffected sibling. Dysplasia of the fingernails and toenails was noted ( Fig. 1 A and B), and magnetic resonance imaging of the brain revealed cerebellar hypoplasia ( Fig. 1 C). A flow-fluorescent in-situ hybridization examination showed that the telomere length was shorter than the first percentile of the age-matched standard for all leukocyte subsets. Genetic testing by targeted next generation sequencing detected a known missense mutation in the TINF2 gene, c.845G > A, (NM_001099274) predicting p.(Arg282His). A diagnosis of Revesz syndrome was made.
Ocular examinations showed exotropia, and her best-corrected visual acuity (BCVA) was light perception in the right eye and 20/50 in the left eye by the dot card acuity test. Although vitreous hemorrhage and tractional retinal detachment were detected by ultrasonography in the right eye, surgical treatment was not considered at that time. Preretinal hemorrhage in the temporal macular area and vitreal and preretinal fibrosis with exudation was found in the left eye ( Fig. 2 A). The retinal detachment with the vitreous hemorrhage was found to be progressive in the left eye, and she was referred to the University of Occupational and Environmental Health Hospital for surgery.
Our initial ultrasonic examination showed that vitreous hemorrhages and tractional retinal detachment were present in both eyes ( Figs. 2B and 3 A). Her BCVA had decreased to hand motion in the left eye.
