Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity

McElnea, Elizabeth; Spek, Nick van der; Smith, Owen; Fitzsimon, Susan; Patel, Chetan K.; O'Marcaigh, Aengus

doi:10.1016/j.jaapos.2013.07.016

Cited by 14 publications

(11 citation statements)

References 8 publications

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“…This is the seventh Case of Revesz syndrome that underwent ocular treatments for the retinal complications and the fourth case that underwent vitreous surgery. 3 , 6 , 7 , 8 , 9 McElena et al 3 studied an 11 year-old boy who had leukocoria with retinal detachments in both eyes. He underwent a lens-sparing vitrectomy, membrane dissection, and endolaser photocoagulation of the right eye.…”

Section: Discussionmentioning

confidence: 99%

“… 2 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. 3 …”

Section: Introductionmentioning

confidence: 99%

“… 1 , 4 , 5 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. 3 , 6 , 7 , 8 , 9 So far, six cases of Revesz syndrome that underwent ocular treatments for the retinal complications have been reported. 3 , 6 , 7 , 8 , 9 We present our findings in a Case of Revesz syndrome with bilateral retinal detachments that were successfully treated by pars plana vitrectomy.…”

Section: Introductionmentioning

confidence: 99%

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

Asano

Tsukamoto

Sonoda

et al. 2021

American Journal of Ophthalmology Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%

“… 2 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. 3 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Asano

Tsukamoto

Sonoda

et al. 2021

American Journal of Ophthalmology Case Reports

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“…Hence, RS should be considered in case of Coats-like retinopathy in infants without a typical history. Therapy included photocoagulation [17,18,20,23,34,37,41], repeated bevacizumab injections [17,34], retinocryopexia [35,36], and surgical approaches, including vitrectomy [17,34,37,41] and enucleation, in cases of complete loss of visual acuity with or without painful glaucoma [16,36,41]. To date, laser photocoagulation is the preferred mode of therapy, and bevacizumab injections are an alternative [50].…”

Section: Retinopathymentioning

confidence: 99%

Revesz syndrome revisited

Karremann

Neumaier-Probst

Schlichtenbrede

et al. 2020

Orphanet J Rare Dis

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Background Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. Methods To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. Results The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4–1.6). Retinopathy occurred typically between 6 and 18 months of age (median age 1.1 years; 95% CI 0.7–1.5). The incidence of seizures was low and was present in an estimated 20% of patients. The onset of seizures was exclusively during early childhood. The Kaplan–Meier estimate of survival was dismal (median survival 6.5 years; 95% CI 3.6–9.4), and none of the patients survived beyond the age of 12 years. Stem cell transplantation (SCT) was performed in eight children, and after a median of 22 months from SCT four of these patients were alive at the last follow up visit. Conclusion RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future.

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“…El síndrome de Revesz (OMIM #268130), fue descrito por primera vez en 1992, se debe a mutaciones en el gen TINF2, es otra variante infrecuente de la DC, la característica definitoria es la retinopatía exudativa bilateral, que se presenta en la mayoría de los casos en asociación con la calcificación intracraneal y las alteraciones más clásicas de la DC, como la insuficiencia de la médula ósea y las anomalías mucocutáneas; además, puede presentar retraso del crecimiento intrauterino, hipoplasia cerebelosa, y retraso del desarrollo (4,6,11,17).…”

Section: Variantes Clínicasunclassified

Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita

Perona

Sastre

Callea

et al. 2020

Rev Peru Investig Salud

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La disqueratosis congénita corresponde la primera entidad genética descrita entre las telomeropatías, cuya forma clásica se caracteriza por presentar la tríada mucocutánea de pigmentación reticulada de encaje en piel, distrofia ungueal y leucoplasia oral. Puede cursar además con insuficiencia de la médula ósea, tumores hematológicos y sólidos que corresponde las complicaciones más graves. Además de inmunodeficiencias, alteraciones dentales, pulmonares y hepáticas y otros aspectos considerados menores. Presenta a su vez una variada heterogeneidad genética de locus, con al menos 14 genes implicados en el acortamiento de los telómeros, asociados por lo tanto a la disqueratosis congénita o a fenotipos similares. Esta revisión discute además de las características clínicas, las diversas causas etiológicas, evolución, opciones terapéuticas disponibles y diagnóstico diferenciales de esta entidad con el objeto de brindar una evaluación médica interdisciplinaria e individualizada que incluya un adecuado asesoramiento genético.

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Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity

Cited by 14 publications

References 8 publications

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

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

Revesz syndrome revisited

Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita

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