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Optic Disc Pit with Sectorial Retinitis Pigmentosa

DOI: 10.1155/2013/156023

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Abstract:

Sectorial retinitis pigmentosa (RP) and optic disc pit (ODP) are rare clinical conditions. We present a 40-year-old woman with a history of mild night blindness and decreased vision in the right eye for about 5 years. Fundus examination revealed retinal pigmentary changes in the superior and inferotemporal sectors covering the macula and reduced arterial calibre and ODP at the temporal edge of the optic disc. In addition, fundus autofluorescence, spectral-domain optical coherence tomography, fluorescein angiography, and multifocal electroretinogram scans confirmed these clinical findings. Visual acuity was decreased due to an atrophic-appearing foveal lesion. No intervention was suggested because of the poor visual potential. To the best of our knowledge, the present study is the first to describe coexistent optic disc pit and sectorial RP in the superior and inferotemporal sectors covering the macula in the same eye with figures. 1. Introduction Optic disc pit was first defined by Wiethe in 1882 [1] and is a congenital cavitary optic disc anomaly found in approximately one in 11,000 patients [2]. It is thought to be a small localized colobomatous defect of the optic nerve head due to faulty closure of the embryonic fissure or anomalous development of the primordial optic nerve [2]. Retinitis pigmentosa (RP), also known as rod-cone dystrophy, is a heterogeneous group of inherited retinal degenerations that primarily affect rods with secondary cone degeneration and lead to tunnel vision and blindness [3]. The incidence is reported as 1 in 3000–4000 in various studies, and it is estimated to affect 1.5 to 2 million persons globally [3]. Sectorial RP was first identified by Bietti [4] and is a rare variant of RP that constitutes less than 2% of all RP subtypes [5]. The current report describes ODP in a patient with sectorial RP in the same eye. Associated spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging, fluorescein angiography (FFA), and multifocal electroretinogram (mfERG) findings are presented. 2. Case Report A 40-year-old woman with a history of mild night blindness and decreased vision in her right eye for about 5 years was seen in our department of ophthalmology. Her medical history was not noteworthy and no history of trauma was detected. No other cases with the same symptomatology were noticed in the patient’s family. At that time, visual acuity was CF 1?m and 20/20 in the right (OD) and left eyes (OS), respectively. Manifest refraction was ?1.00 to ?2.00?×?80° and +0.50?×?180 in OD and OS, respectively.

References

[1]  T. Wiethe, “Ein fall von angeborener deformit?t der sehnervenpapille,” Arch Augenheilkd, vol. 11, pp. 14–19, 1882.
[2]  I. Georgalas, I. Ladas, G. Georgopoulos, and P. Petrou, “Optic disc pit: a review,” Graefe's Archive for Clinical and Experimental Ophthalmology, vol. 249, no. 8, pp. 1113–1122, 2011.
[3]  K. Shintani, D. L. Shechtman, and A. S. Gurwood, “Review and update: current treatment trends for patients with retinitis pigmentosa,” Optometry, vol. 80, no. 7, pp. 384–401, 2009.
[4]  G. Bietti, “Su alcone forme atipiche o rare di degenerazione retinica (degenerazioni tappeto-retiniche e quadri morbosi similari),” Bollettino d'Oculistica, vol. 16, pp. 1159–1244, 1937.
[5]  H. P. N. Scholl and J. Kremers, “L- and M-cone driven large-field and multifocal electroretinograms in sector retinitis pigmentosa,” Documenta Ophthalmologica, vol. 106, no. 2, pp. 171–181, 2003.
[6]  S. Sheth, R. Rush, and R. Narayanan, “Retinitis pigmentosa inversa with unilateral high myopia with fellow eye optic disc pitting,” European Journal of Ophthalmology, vol. 21, no. 4, pp. 509–512, 2011.
[7]  V. Godel and L. Regenbogen, “Unilateral retinitis pigmentosa and pit of optic disc,” Archives of Ophthalmology, vol. 94, no. 8, pp. 1417–1418, 1976.

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