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Review
. 2019 Dec 30:25:869-889.
eCollection 2019.

Sector retinitis pigmentosa: Report of ten cases and a review of the literature

Razek Georges Coussa  1 , Diana Basali  1 , Akiko Maeda  2 , Meghan DeBenedictis  1 , Elias I Traboulsi  1
Affiliations
Review

Sector retinitis pigmentosa: Report of ten cases and a review of the literature

Razek Georges Coussa et al. Mol Vis. .

Abstract

Purpose: To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previously reported mutations associated with sector RP and provide a discussion of possible underlying pathophysiological mechanisms.

Methods: Patients underwent detailed ophthalmologic examinations, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual field and electroretinographic testing. All patients underwent genetic testing to identify the molecular etiology of their disease.

Results: A total of ten patients were studied. Among these patients, nine had mutations in RHO (c.677T>C; p.Leu226Pro (novel), c.68C>A; p.Pro23His, c.808A>C; p.Ser270Arg, c.44A>G; p.Asn15Ser, and c.325G>A; p.Gly109Arg), and one patient had a mutation in RPGR (c.3092_3093delAG; p.Glu1031Glyfs*47). All patients with missense mutations in RHO had visual acuities (VAs) better than 20/30 and showed a retained foveal ellipsoid zone and overlying retinal structures. The patient with the c.3092_3093delAG deletion in RPGR had VA of 20/60 oculus dexter (OD) and 20/400 oculus sinister (OS), as well as significant foveal thinning and contour atrophy. All patients showed pigmentary changes, or marked atrophy along the inferior arcades, or both. This pattern of degeneration corresponded to hypo- and hyperFAF and superior visual defects.

Conclusions: Sector RP is an uncommon form of RP in which only one or two retinal quadrants display clinical pathological signs. The great majority of cases result from mutations in RHO. The present data confirmed previously reported phenotypic manifestations of sector RP. Inferior retinal quadrants are possibly more severely affected due to greater light exposure.

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Figures

Figure 1
Figure 1
Clinical imagining of patient 1 with a c.68C>A mutation in RHO (Pro23His). A: Oculus dexter (OD) color photo of the posterior pole showing a normal exam. B: Oculus sinister (OS) color photo of the posterior pole showing a normal exam. C: OD fundus autofluorescence (FAF) photo of the posterior pole showing hyper-autofluorescence (hyperAF) most noticeable along the inferior arcade with adjacent hypoautofluorescence (hypoAF) with the speckled pattern of hyperAF outside the inferior arcade extending into the midperiphery. D: OS FAF photo of the posterior pole showing hyperAF most noticeable along the inferior arcade with adjacent hypoAF with the speckled pattern of hyperAF outside the inferior arcade extending into the midperiphery. E: OD widefield color fundus photo showing RPE hypopigmentation and atrophic changes most prominent along the inferior arcades midperipherally as well as in the temporal periphery. F: OS OD widefield color fundus photo showing RPE hypopigmentation and atrophic changes most prominent along the inferior arcades midperipherally as well as in the temporal periphery. G: OD widefield fundus FAF photo showing hyperAF most noticeable along the inferior arcade with adjacent hypoAF with the speckled pattern of hyperAF outside the inferior arcade extending into the midperiphery. H: OS widefield fundus FAF photo showing hyperAF most noticeable along the inferior arcade with adjacent hypoAF with the speckled pattern of hyperAF outside the inferior arcade extending into the midperiphery. I: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing mild blunting of the foveal depression. J: OS foveal SD-OCT showing mild blunting of the foveal depression. K: OS Goldman visual field showing mild superior visual field loss. L: OD Goldman visual field showing mild superior visual field loss. M: OD photopic electroretinogram (ERG) response showing reduced low amplitudes. N: OS photopic ERG response showing reduced low amplitudes. O: OD scotopic ERG response showing reduced low amplitudes. P: OS scotopic ERG response showing reduced low amplitudes.
Figure 2
Figure 2
Visual field testing of patient 2 with a novel c.677T>C mutation in RHO (p.Leu226Pro). A: Oculus sinister (OS) Humphrey 24-2 SITA Fast visual field showing superior hemifield defects. B: Oculus dexter (OD) Humphrey 24-2 SITA Fast visual field showing superior hemifield defects.
Figure 3
Figure 3
Clinical imagining of patient 3 with a novel c.677T>C mutation in RHO (p.Leu226Pro). A, E: Oculus dexter (OD) color photos showing RPE hypopigmentation and atrophic changes with bone spicules most prominent along the inferior arcades. B, F: Oculus sinister (OS) color photos showing RPE hypopigmentation and atrophic changes with bone spicules most prominent along the inferior arcades. C, G: OD fundus autofluorescence (FAF) photos showing crescent-shaped hyper-autofluorescence (hyperAF) contouring the fovea inferiorly and temporally as well as the optic nerve nasally. There is also a patchy pattern of hypoautofluorescence (hypoAF) along the inferior arcades just adjacent to the previously mentioned crescent-shaped hyperAF. F, H: OS FAF photos showing crescent-shaped hyperAF contouring the fovea inferiorly and temporally as well as the optic nerve nasally. There is also a patchy pattern of hypoAF along the inferior arcades just adjacent to the previously mentioned crescent-shaped hyperAF. I: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing parafoveal retinal thinning and loss of the ellipsoid zone. J: OS foveal SD-OCT showing parafoveal retinal thinning and loss of the ellipsoid zone. K: OS Goldman visual field showing superior hemifield defects between the 10th and 30th degrees. L: OD Goldman visual field showing superior hemifield defects between the 10th and 30th degrees.
Figure 4
Figure 4
Clinical imagining of patient 4 with a c.808A>C mutation in RHO (p.Ser270Arg). A, C: Ocular dexter (OD) color photo of posterior pole showing RPE hypopigmentation and atrophic changes with occasional bone spicules most prominent along the inferior arcades. B, D: Oculus sinister (OS) color photo of posterior pole showing RPE hypopigmentation and atrophic changes with occasional bone spicules most prominent along the inferior arcades. E, G: OD fundus autofluorescence (FAF) photos showing crescent-shaped hyper-autofluorescence (hyperAF) contouring the fovea inferiorly and temporally as well as the optic nerve nasally. There is also a patchy pattern of hypoautofluorescence (hypoAF) along the inferior arcades just adjacent to the previously mentioned crescent-shaped hyperAF. F, H: OS FAF photos showing crescent-shaped hyperAF contouring the fovea inferiorly and temporally as well as the optic nerve nasally. There is also a patchy pattern of hypoAF along the inferior arcades just adjacent to the previously mentioned crescent-shaped hyperAF. I: OD foveal SD-OCT showing parafoveal retinal thinning and loss of the ellipsoid zone and photoreceptor layer most prominent in the inferior part of the posterior pole. J: OS foveal SD-OCT showing parafoveal retinal thinning and loss of the ellipsoid zone and photoreceptor layer most prominent in the inferior part of the posterior pole. K: OS Goldman visual field showing superior parafoveal arcuate-like scotoma within the central 40 degrees. L: OD Goldman visual field showing superior parafoveal arcuate-like scotoma within the central 40 degrees.
Figure 5
Figure 5
Clinical imagining of patient 5 with a c.808A>C mutation in RHO (p.Ser270Arg). A, E: Oculus dexter (OD) color photos showing an oval-shaped island of RPE hypopigmentation and atrophy extending from within the inferior posterior pole to the midperiphery and along the inferior arcades. B, F: Oculus sinister (OS) color photos showing an oval-shaped island of RPE hypopigmentation and atrophy extending from within the inferior posterior pole to the midperiphery and along the inferior arcades. C, G: OD fundus autofluorescence (FAF) photos showing an oval-shaped island of RPE hypopigmentation and atrophy extending from within the inferior posterior pole to the midperiphery and along the inferior arcades. D, H: OS FAF photos showing an oval-shaped island of RPE hypopigmentation and atrophy extending from within the inferior posterior pole to the midperiphery and along the inferior arcades. I: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing normal retinal structures. J: OS foveal SD-OCT showing normal retinal structures. K: OS Goldman visual field showing mild superior visual field loss. L: OD Goldman visual field showing mild superior visual field loss.
Figure 6
Figure 6
Clinical imagining of patient 6 with a c.44A>G mutation in RHO (p.Asn15Ser). A, C: Oculus dexter (OD) color photos of the posterior pole showing marked RPE atrophy and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as superonasally with respect to the optic disc and the superior arcade. B, D: Oculus sinister (OS) color photos of the posterior pole showing marked RPE atrophy and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as superonasally with respect to the optic disc and the superior arcade. E: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing parafoveal retinal thinning and loss of the ellipsoid zone and photoreceptor layer most prominent in the inferior part of the posterior pole. F: OS foveal SD-OCT showing parafoveal retinal thinning and loss of the ellipsoid zone and photoreceptor layer most prominent in the inferior part of the posterior pole. G: OS Humphrey 30-2 SITA Standard visual field showing circumferential constriction. H: OD Humphrey 30-2 SITA Standard visual field showing circumferential constriction.
Figure 7
Figure 7
Clinical imagining of patient 7 with a c.44A>G mutation in RHO (p.Asn15Ser). A, E: Oculus dexter (OD) color photos showing a concentric foveal hypopigmentation, marked parafoveal RPE mottling and hypopigmentation, RPE atrophy, and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as temporally and superonasally with respect to the optic disc and superonasally with respect to the superior arcade. B, F: Oculus sinister (OS) color photos showing concentric foveal hypopigmentation, marked parafoveal RPE mottling and hypopigmentation, RPE atrophy, and bone spicules adjacent to and along the inferior arcades with mild extension temporally to the fovea as well as temporally and superonasally with respect to the optic disc and superonasally with respect to the superior arcade. C, G: OD fundus autofluorescence (FAF) fundus photos showing a central hyper-autofluorescence (hyperAF) rim surrounded by a speckled pattern of hypoautofluorescence (hypoAF) forming a “bull’s eye”-like pattern. There is also a circinate area of hypoAF along the inferior and superior arcades with a patchy pattern of marked hypoAF extending inferiorly from the inferior arcade into the periphery. D, H: OS FAF fundus photos showing a central hyperAF rim surrounded by a speckled pattern of hypoAF forming a “bull’s eye”-like pattern. There is also a circinate area of hypoAF along the inferior and superior arcades with a patchy pattern of marked hypoAF extending inferiorly from the inferior arcade into the periphery. I: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing a small island of preservation in the ellipsoid zone subfoveally, marked retinal layers contour abnormalities and thinning, RPE hyperreflective round deposits, significant choroidal hyper-reflective signal, and intraretinal cystic spaces. J: OS foveal SD-OCT showing a small island of preservation in the ellipsoid zone subfoveally, marked retinal layer contour abnormalities and thinning, RPE hyperreflective round deposits, significant choroidal hyper-reflective signal, and intraretinal cystic spaces. K: OS Goldman visual field showing superonasal and inferonasal defects. L: OD Goldman visual field showing superonasal defects.
Figure 8
Figure 8
Clinical imagining of patient 8 with a c.325G>A mutation in RHO (p.Gly109Arg). A, E: Oculus dexter (OD) color photos showing RPE hypopigmentation and atrophic changes extending inferiorly from the inferior arcade border to the periphery. B, F: Oculus sinister (OS) color photos showing RP RPE hypopigmentation and atrophic changes extending inferiorly from the inferior arcade border to the periphery. C, G: OD fundus autofluorescence (FAF) fundus photos showing a linear hyper-autofluorescence (hyperAF) abutting the inferior edge of the fovea. An OU patchy pattern of hypoautofluorescence (hypoAF) extending from the inferior border of the inferior arcade into the inferior and inferonasal midperiphery. D, H: OS FAF fundus photos showing linear hyperAF abutting the inferior edge of the fovea. OU patchy pattern of hypoAF extending from the inferior border of the inferior arcade into the inferior and inferonasal midperiphery. I: OD spectral-domain optical coherence tomography (SD-OCT) of the superior posterior pole showing retinal thinning and ellipsoid zone loss of the superior posterior pole adjacent to the arcades. J: OD foveal SD-OCT showing a small island of preservation in the ellipsoid zone subfoveally with parafoveal loss of the ellipsoid zone. K: OD SD-OCT of the inferior posterior pole showing marked retinal disorganization and RPE hyper-reflective round deposits adjacent to the arcades with significant choroidal hyporeflective signal. L: OS SD-OCT of the superior posterior pole showing retinal thinning and ellipsoid zone loss adjacent to the arcades. M: OS foveal SD-OCT showing a small island of preservation in the ellipsoid zone subfoveally with parafoveal loss of the ellipsoid zone. N: OS SD-OCT of the inferior posterior pole showing marked retinal disorganization and RPE hyper-reflective round deposits adjacent to the arcades with significant choroidal hyporeflective signal. O: OS Goldman visual field showing mild nasal constriction. P: OD Goldman visual field showing small superior defects and mild temporal constriction.
Figure 9
Figure 9
Clinical imagining of patient 9 with a c.68C>A mutation in RHO (p.Pro23His). A, C: Oculus dexter (OD) color photos showing scant bone spicules in the inferotemporal periphery. B, D: Oculus sinister (OS) color photos showing scant bone spicules in inferotemporal periphery. E: OD fundus autofluorescence (FAF) fundus photos showing a crescent-shaped area of hypoautofluorescence (hypoAF) along the inferior arcades extending into the inferior midperiphery as well as the infero- and superonasal periphery. F: OS FAF fundus photos showing a crescent-shaped area of hypoAF along the inferior arcades extending into the inferior midperiphery as well as the infero- and superonasal periphery. G: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing mild outer retinal attenuation. H: OS foveal SD-OCT showing mild outer retinal attenuation. I: OS Goldman visual field showing circumferential constriction. J: OD Goldman visual field showing circumferential constriction.
Figure 10
Figure 10
Clinical imagining of patient 10 with a c.3092_3093delAG mutation in RPGR. A, C: Oculus dexter (OD) color photos showing a tessellated fundus, blunted foveal reflex, hypopigmentation, and atrophic changes most prominent along the inferior arcades midperipherally. There are also marked bone spicules in the inferonasal midperiphery. B, D: Oculus sinister (OS) color photos showing a tesselated fundus, blunted foveal reflex, hypopigmentation, and atrophic changes most prominent along the inferior arcades midperipherally. There are also marked bone spicules in the inferonasal midperiphery. E: OD fundus autofluorescence (FAF) photo showing a hypoautofluorescence (hypoAF) area bordering the inferior arcades and extending inferiorly and inferonasally into the midperiphery. There is also a linear edge of hyper-autofluorescence (hyperAF) superior to the area of hypoAF. F: OS FAF photo showing a hypoAF area bordering the inferior arcades and extending inferiorly and inferonasally into the midperiphery. There is also a linear edge of hyperAF superior to the area of hypoAF. G: OD foveal spectral-domain optical coherence tomography (SD-OCT) showing generalized foveal thinning with marked ellipsoid zone abnormalities as well as RPE hyperreflective round deposits and diffuse thickening of the RPE band. H: OS foveal SD-OCT showing generalized foveal thinning with marked ellipsoid zone abnormalities, as well as RPE hyperreflective round deposits and diffuse thickening of the RPE band. I: OS Goldman visual field showing circumferential constriction with marked superior visual field defects. J: OD Goldman visual field showing circumferential constriction with marked superior visual field defects.
Figure 11
Figure 11
Illustration of mutations in RHO previously reported to cause sector RP.
See this image and copyright information in PMC

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