Results
Clinical and imaging findings
Proband case (case III:3)
We examined a 6-year-old male and his affected brother, sister, mother and maternal grandmother, and his unaffected father (Figure 1 - Pedigree). This patient was referred to our institution for further evaluation of blurred optic disc margins bilaterally noted on a routine eye exam. Of note, he had a past medical history relevant for abdominal migraines and a 9 millimeter in diameter complex pineal cystic gland, incidentally found at age 5 and being followed by Neurosurgery with no interval changes over the past year. On initial exam his best-corrected visual acuity (BCVa) was 20/30 in both eyes (OU) with no afferent pupillary defect. Color vision, stereopsis, motility and ocular balance …show more content…
Dilated fundus exam showed blurred optic disc margins with no hemorrhages or vessel obscurations. Extensive work up for papilledema and papillitis including B-scan, intracranial pressure Codman monitoring, infectious and autoimmune panel was unrevealing. On a subsequent visit, our patient presented with intermittent headaches and blurred vision. At that point, the ophthalmic exam was remarkable for a decreased BCVa to 20/40 OU and subtle cogwheel macular changes OU, which prompted further testing. Macular OCT revealed subfoveal cystic-like changes concerning for retinoschisis. Electroretinography showed normal cone-driven response but abnormal rod-driven response, and an absent b-wave on mixed-rod cone response consistent with a negative electroretinogram. Fundus autofluorescence photograph disclosed a hyperfluorescent petaloid pattern at the central macula with a
Clinical and imaging findings
Proband case (case III:3)
We examined a 6-year-old male and his affected brother, sister, mother and maternal grandmother, and his unaffected father (Figure 1 - Pedigree). This patient was referred to our institution for further evaluation of blurred optic disc margins bilaterally noted on a routine eye exam. Of note, he had a past medical history relevant for abdominal migraines and a 9 millimeter in diameter complex pineal cystic gland, incidentally found at age 5 and being followed by Neurosurgery with no interval changes over the past year. On initial exam his best-corrected visual acuity (BCVa) was 20/30 in both eyes (OU) with no afferent pupillary defect. Color vision, stereopsis, motility and ocular balance …show more content…
Dilated fundus exam showed blurred optic disc margins with no hemorrhages or vessel obscurations. Extensive work up for papilledema and papillitis including B-scan, intracranial pressure Codman monitoring, infectious and autoimmune panel was unrevealing. On a subsequent visit, our patient presented with intermittent headaches and blurred vision. At that point, the ophthalmic exam was remarkable for a decreased BCVa to 20/40 OU and subtle cogwheel macular changes OU, which prompted further testing. Macular OCT revealed subfoveal cystic-like changes concerning for retinoschisis. Electroretinography showed normal cone-driven response but abnormal rod-driven response, and an absent b-wave on mixed-rod cone response consistent with a negative electroretinogram. Fundus autofluorescence photograph disclosed a hyperfluorescent petaloid pattern at the central macula with a