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 -