Bilateral Disc Edema and Unilateral Macular Hole in a Patient with Retinitis Pigmentosa

Özdek, Şengül; Özdoğan, Sibel; Sezgin, Tezcan; Güreli̇k, Gökhan

doi:10.1177/112067210601600324

Cited by 11 publications

(6 citation statements)

References 5 publications

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“…Inflammatory diseases were ruled out by clinical testing and epidemiologic data (2). Cystoid macular edema is not unusual in RP and improves with carbonic anhydrase inhibitors, as in our cases (3-7); CME due to intraocular inflammation does not typically improve with this treatment. Acute zonal occult outer retinopathy has not been reported in children and presents autofluorescence abnormalities at the peripapillary region which were not found in our cases (8).…”

Section: Discussionsupporting

confidence: 49%

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Unilateral Retinitis Pigmentosa: A Proposal of Genetic Pathogenic Mechanisms

Marsiglia

Duncker

Peiretti

et al. 2011

European Journal of Ophthalmology

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Purpose To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis. Methods This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed. Results Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient. Conclusions Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.

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Section: Discussionsupporting

confidence: 49%

“…The reduced ERG in these cases ruled out mitochondrial retinal diseases and viral papillitis. Disc swelling can be seen in RP (3, 4, 9). Cancer-associated retinopathy does not present a similar fundus appearance to that of RP.…”

Section: Discussionmentioning

confidence: 99%

Unilateral Retinitis Pigmentosa: A Proposal of Genetic Pathogenic Mechanisms

Marsiglia

Duncker

Peiretti

et al. 2011

European Journal of Ophthalmology

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“…[7] Furthermore in some cases a recalcitrant, chronic CME that is often associated with RP may also be responsible for MH formation. [1] In our study, among the three patients with RP, two revealed incomplete posterior vitreous detachment and one patient had long standing CME. The surgical results were satisfactory in the patient with CME.…”

Section: Discussionmentioning

confidence: 61%

“…In some patients of RP, associated cystoid macular edema (CME) secondary to chronic ischemia resulting from poorly perfused foveal capillaries may be the predecessor to MH formation. [1] Likewise, a schisis of the inner and outer retinal layers due to chronic leakage from an optic disc pit can result in an outer lamellar or full thickness MH. [2] Other factors responsible for MH formation are traction by condensed vitreous and glial proliferation along the internal limiting membrane (ILM).…”

Section: Introductionmentioning

confidence: 99%

Surgery for macular holes associated with unusual concomitant pathologies

Ratra

Raval

2013

Oman J Ophthalmol

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Macular hole (MH) is uncommonly seen in association with retinitis pigmentosa (RP), optic disc pit or choroidal coloboma. The visual disability in eyes with RP, optic disc pit or choroidal coloboma can range from mild to severe. However, the macula may not be involved in the primary pathology and hence, the central vision may be preserved in these eyes. If a MH develops in such eyes the central vision is lost, making the patient severely vision disabled. A perceived poor prognosis in such patients may lead to no intervention. However, an attempt should be made to repair and restore the macula in these situations in order to conserve the vision and limit disability. These eyes can however pose unique surgical challenges. We report our experiences of operating on cases of MH associated with unusual concomitant pathologies such as RP, choroidal coloboma, and optic pit. The outcomes and the surgical challenges differed greatly from the conventional idiopathic MH surgery.

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“…Wiadomo, że hipoksja jest odpowiedzialna za powstanie błony nasiatkówkowej i tam ilość zmienionego ciała szklistego była większa. Otwór w plamce natomiast, tam objętość zmienionego ciała szklistego jest mniejsza, był związany raczej z trakcją szklistkowo-siatkówkową (3)(4)(5)(6)(7).…”

Section: Issn 0023-2157 Index 362646unclassified

Vitrectomy for macular lesions in eyes with retinitis pigmentosa

Nowosielska¹

2018

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Zwyrodnienie barwnikowe siatkówki (ang. Retinitis Pigmentosa-RP), to grupa schorzeń uwarunkowanych genetycznie, dziedziczonych w różny sposób, o potencjalnie różnej manifestacji klinicznej. Głównymi objawami RP są: ślepota nocna, obniżenie ostrości wzroku i zawężenie pola widzenia do stadium wyspy centralnej. W badaniu klinicznym u pacjentów z tą chorobą stwierdza się tak zwane komórki kostne, czyli charakterystyczne przebarwienia w kształcie gwiazdki rozsiane na średnim i dalszym obwodzie siatkówki (choć istnieją odmiany tej choroby tak zwane "bez barwnika"). Charakterystyczne zmiany stwierdza się w czasie badania elektrofizjologicznego (ERG), rejestruje się wówczas obniżenie lub wygaszenie amplitudy fal a oraz b. Chorobowość w zwyrodnienieniu barwnikowym siatkówki wynosi 1: 4000, z tego 50-60% pacjentów ma schorzenie dziedziczone autosomalnie recesywnie, 30-40% autosomalnie dominująco, a 5-15% w sposób sprzężony z chromosomem X (1). Retinitis pigmentosa nierzadko współtowarzyszą zaćma, jaskra i zmiany w obrębie siatkówki centralnej, które są najbardziej niebezpieczne spośród wszystkich wymienionych. Zmiany umiejscowione w okolicy plamki są bardzo niekorzystne, ponieważ zaburzenia w obszarze centralnego pola widzenia mogą odebrać resztki widzenia. Zabiegi chirurgiczne dokonywane w obrębie centralnej części siatkówki u chorych na RP są rzadko opisywane (1-4).

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Bilateral Disc Edema and Unilateral Macular Hole in a Patient with Retinitis Pigmentosa

Abstract: Inflammatory response in the course of retinitis pigmentosa may result in disc edema and cystoid macular edema, which may further progresses to macular hole.

Cited by 11 publications

References 5 publications

Unilateral Retinitis Pigmentosa: A Proposal of Genetic Pathogenic Mechanisms

Unilateral Retinitis Pigmentosa: A Proposal of Genetic Pathogenic Mechanisms

Surgery for macular holes associated with unusual concomitant pathologies

Vitrectomy for macular lesions in eyes with retinitis pigmentosa

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