SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy

Abdullah A Al-Qahtani; Shakoor Ba-Ali; Talal Alabduljalil; Aaron S Coyner; Rachel C Patel; Richard G Weleber; Aniz Girach; Søren K Christensen; Michael Larsen; Mark E Pennesi; Paul Yang

doi:10.1097/IAE.0000000000001957

SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy

Abdullah A Al-Qahtani, Shakoor Ba-Ali, Talal Alabduljalil, Aaron S Coyner, Rachel C Patel, Richard G Weleber, Aniz Girach, Søren K Christensen, Michael Larsen, Mark E Pennesi, Paul Yang

Department of Clinical Medicine

4 Citations (Scopus)

Abstract

PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).

METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis.

RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP.

CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.

Original language	English
Journal	Retina
Volume	38
Issue number	9
Pages (from-to)	1725-1730
ISSN	0275-004X
DOIs	https://doi.org/10.1097/IAE.0000000000001957
Publication status	Published - 2018

Keywords

Abnormalities, Multiple/diagnosis
Adult
Aged
Bruch Membrane/pathology
Choroid/blood supply
Choroideremia/diagnosis
Cleft Lip/diagnosis
Cleft Palate/diagnosis
Cross-Sectional Studies
Cysts/diagnosis
Female
Fluorescein Angiography/methods
Follow-Up Studies
Genetic Therapy/methods
Humans
Lip/abnormalities
Male
Middle Aged
Retinal Pigment Epithelium/pathology
Sclera/abnormalities
Tomography, Optical Coherence/methods
Visual Acuity

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10.1097/IAE.0000000000001957

Cite this

@article{0ae7ada5ac5d4a9f8ef288a591b516ed,

title = "SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy",

abstract = "PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis.RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP.CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.",

keywords = "Abnormalities, Multiple/diagnosis, Adult, Aged, Bruch Membrane/pathology, Choroid/blood supply, Choroideremia/diagnosis, Cleft Lip/diagnosis, Cleft Palate/diagnosis, Cross-Sectional Studies, Cysts/diagnosis, Female, Fluorescein Angiography/methods, Follow-Up Studies, Genetic Therapy/methods, Humans, Lip/abnormalities, Male, Middle Aged, Retinal Pigment Epithelium/pathology, Sclera/abnormalities, Tomography, Optical Coherence/methods, Visual Acuity",

author = "Al-Qahtani, {Abdullah A} and Shakoor Ba-Ali and Talal Alabduljalil and Coyner, {Aaron S} and Patel, {Rachel C} and Weleber, {Richard G} and Aniz Girach and Christensen, {S{\o}ren K} and Michael Larsen and Pennesi, {Mark E} and Paul Yang",

year = "2018",

doi = "10.1097/IAE.0000000000001957",

language = "English",

volume = "38",

pages = "1725--1730",

journal = "Retina",

issn = "0275-004X",

publisher = "Lippincott Williams & Wilkins",

number = "9",

}

TY - JOUR

T1 - SCLERAL PITS IN CHOROIDEREMIA

T2 - Implications for Retinal Gene Therapy

AU - Al-Qahtani, Abdullah A

AU - Ba-Ali, Shakoor

AU - Alabduljalil, Talal

AU - Coyner, Aaron S

AU - Patel, Rachel C

AU - Weleber, Richard G

AU - Girach, Aniz

AU - Christensen, Søren K

AU - Larsen, Michael

AU - Pennesi, Mark E

AU - Yang, Paul

PY - 2018

Y1 - 2018

N2 - PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis.RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP.CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.

AB - PURPOSE: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).METHODS: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis.RESULTS: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (-2.6 ± 0.5 vs. -0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP.CONCLUSION: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.

KW - Abnormalities, Multiple/diagnosis

KW - Adult

KW - Aged

KW - Bruch Membrane/pathology

KW - Choroid/blood supply

KW - Choroideremia/diagnosis

KW - Cleft Lip/diagnosis

KW - Cleft Palate/diagnosis

KW - Cross-Sectional Studies

KW - Cysts/diagnosis

KW - Female

KW - Fluorescein Angiography/methods

KW - Follow-Up Studies

KW - Genetic Therapy/methods

KW - Humans

KW - Lip/abnormalities

KW - Male

KW - Middle Aged

KW - Retinal Pigment Epithelium/pathology

KW - Sclera/abnormalities

KW - Tomography, Optical Coherence/methods

KW - Visual Acuity

U2 - 10.1097/IAE.0000000000001957

DO - 10.1097/IAE.0000000000001957

M3 - Journal article

C2 - 29160785

SN - 0275-004X

VL - 38

SP - 1725

EP - 1730

JO - Retina

JF - Retina

IS - 9

ER -

SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy

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Keywords

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