Gyrate Atrophy - 15 year old male
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15 year old male was diagnosed with “retinitis pigmentosa†at age seven. He would like to get contact lenses but I understand that you appropriately sent him for retinal evaluation prior to writing him for contact lens prescriptions.
The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
OPHTHALMIC EXAM: Visual acuity with correction of 20/25+ OD, 20/25 OS. He reads with correction J1 OU. IOP: 17 OD, 16 OS. Visual fields have minimal defects peripherally temporally in the right and superiorly in the left.
SLIT LAMP EXAM: Biomicroscopy reveals a quiet anterior segment with a clear nucleus and trace posterior subcapsular cataract. The anterior vitreous is syneretic and does show 1+ pigment.
POSTERIOR SEGMENT EXAM: C/D ratio is 0.1. There is some pallor to the optic nerves. The macular pigment appears intact and has some drusen and irregularity at the level of the RPE at the center of the fovea.
EXTENDED OPHTHALMOSCOPY: The retinal periphery is flat and attached with no breaks or detachments. There is scalloped chorioretinal atrophy present extending posteriorly beyond the equator.
FUNDUS PHOTOGRAPHY: Color and red-free photographs in montage correspond to clinical findings and show scalloped atrophy peripherally.
IMPRESSION:
1. RETINAL DYSTROPHY, LIKELY GYRATE ATROPHY
DISCUSSION: I had a conversation with The patient and his mother and again chatted with her on the telephone the day after their visit. I explained that his eyes are showing a subtype of a retinal dystrophy spectrum of disease known as gyrate atrophy. I explained there is testing for this which could evaluate him for ornithine ketoacid aminotransferase deficiency or chromosome-10 deficiency, and they are going to consider the option of taking the blood tests to see whether or not he truly has gyrate atrophy.
I explained that vitamin A is probably worthwhile to consider as gyrate atrophy does affect the photoreceptors and causes retinal changes. I explained the vitamin A probably has a very low-risk profile. Even though it was more studied in retinitis pigmentosa, it is probably something which may be beneficial.
I explained there are no significant treatment modalities for gyrate atrophy. I explained in the future genetic therapy may be worthwhile and that retinal stem cells or prosthetic retinas may play a role in the future.
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History807 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History617 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History654 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History538 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History755 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History541 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History815 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (2 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History601 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History558 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History568 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History566 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History725 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History690 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (0 votes)
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Gyrate Atrophy - 15 year old male - 20/25 vision both eyes - Positive Family History720 views15 year old male was diagnosed with “retinitis pigmentosa†at age seven. The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
20/25+ OD, 20/25 OS. (1 votes)
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15 year old male was diagnosed with “retinitis pigmentosa†at age seven. He would like to get contact lenses but I understand that you appropriately sent him for retinal evaluation prior to writing him for contact lens prescriptions.
The patient reports that his night vision is poor. He reports he does not notice a visual field change. He reports that his maternal grandfather has lost vision and a cousin has lost vision as well. He reports he has an uncle with some visual changes.
The most significantly affected relative is a 26-year-old legally blind cousin.
OPHTHALMIC EXAM: Visual acuity with correction of 20/25+ OD, 20/25 OS. He reads with correction J1 OU. IOP: 17 OD, 16 OS. Visual fields have minimal defects peripherally temporally in the right and superiorly in the left.
SLIT LAMP EXAM: Biomicroscopy reveals a quiet anterior segment with a clear nucleus and trace posterior subcapsular cataract. The anterior vitreous is syneretic and does show 1+ pigment.
POSTERIOR SEGMENT EXAM: C/D ratio is 0.1. There is some pallor to the optic nerves. The macular pigment appears intact and has some drusen and irregularity at the level of the RPE at the center of the fovea.
EXTENDED OPHTHALMOSCOPY: The retinal periphery is flat and attached with no breaks or detachments. There is scalloped chorioretinal atrophy present extending posteriorly beyond the equator.
FUNDUS PHOTOGRAPHY: Color and red-free photographs in montage correspond to clinical findings and show scalloped atrophy peripherally.
IMPRESSION:
1. RETINAL DYSTROPHY, LIKELY GYRATE ATROPHY
DISCUSSION: I had a conversation with The patient and his mother and again chatted with her on the telephone the day after their visit. I explained that his eyes are showing a subtype of a retinal dystrophy spectrum of disease known as gyrate atrophy. I explained there is testing for this which could evaluate him for ornithine ketoacid aminotransferase deficiency or chromosome-10 deficiency, and they are going to consider the option of taking the blood tests to see whether or not he truly has gyrate atrophy.
I explained that vitamin A is probably worthwhile to consider as gyrate atrophy does affect the photoreceptors and causes retinal changes. I explained the vitamin A probably has a very low-risk profile. Even though it was more studied in retinitis pigmentosa, it is probably something which may be beneficial.
I explained there are no significant treatment modalities for gyrate atrophy. I explained in the future genetic therapy may be worthwhile and that retinal stem cells or prosthetic retinas may play a role in the future.