Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy

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.

Dyskeratosis congenita as a multifaceted bone marrow disorder

“…The occurrence of this syndrome is attributed to a mutation in the TINF2 gene, inherited in an autosomal dominant manner. However, this mutation does not always lead to RS but can also result in HHS or a milder course, with clinical characteristics closer to classical DC [71,72].…”

Avascular Peripheral Retina in Infants

“… 67 The retinal findings are similar to those of exudative retinopathy and include peripheral avascularity of the retina, telangiectatic vessels, neovascularization, and tractional RDs. 67 , 68 , 69 , 70 Excess subretinal fluid, intracranial calcifications, and brain abnormalities that lead to postural instability are important features that distinguish Revesz syndrome from other types of dyskeratosis congenita. 67 , 68 , 71 The subretinal fluid is often diagnosed in small children because they present with leukocoria.…”

“… 69 Depending on the degree of retinal disease, severe vision loss and blindness may occur. 70 Due to the extensive nature of Revesz syndrome, its diagnosis and management require a multidisciplinary team consisting primarily of pediatricians, ophthalmologists, hematologists, dermatologists, and neurologists. 67 , 69 , 70 , 71 The management consists of treating specific symptoms.…”

“… 70 Due to the extensive nature of Revesz syndrome, its diagnosis and management require a multidisciplinary team consisting primarily of pediatricians, ophthalmologists, hematologists, dermatologists, and neurologists. 67 , 69 , 70 , 71 The management consists of treating specific symptoms. Ocular management includes laser photocoagulation to the avascular retina, intravitreal anti-VEGF for neovascularization, and pars plana vitrectomy for RDs.…”

“…Ocular management includes laser photocoagulation to the avascular retina, intravitreal anti-VEGF for neovascularization, and pars plana vitrectomy for RDs. 62 , 70 Life-long follow-up is required to monitor for systemic and ocular disease. 69 , 70 …”