Rod-Cone Dystrophy in Spinocerebellar Ataxia Type 1

Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy

“…[8] Cone dystrophies have been associated with the involvement of several chromosomal loci and genes, not limited to COD2, RCD1 and 2, GUCA1A, RPGR, CNGA3, and CNGB3. [8] Of these, the two progressive manifestations involving symptoms consistent with cerebellar ataxia, such as those in our patient, are SCA and Pierre Marie ataxia, [4,9] with genetic testing identifying SCA1 as the culprit in this case.…”

“…[3] In a previously reported SCA1 case series involving heterogeneous intrafamilial expression, subtle and overt maculopathy were found in the presence and absence of ocular symptoms and were attributed to pigmentary macular dystrophy secondary to rod and cone dysfunction. [3,4,13] is finding, coupled with our multimodal imaging results, suggests that assessment of SCA1 patients with macular imaging may be appropriate before the onset of visual symptoms or at the time of initial diagnosis. Specifically, the use of OCT and en-face OCT is the most useful measures in assessing photoreceptor changes and may be used to monitor progressive macular dystrophy.…”

Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy

“…[8] Cone dystrophies have been associated with the involvement of several chromosomal loci and genes, not limited to COD2, RCD1 and 2, GUCA1A, RPGR, CNGA3, and CNGB3. [8] Of these, the two progressive manifestations involving symptoms consistent with cerebellar ataxia, such as those in our patient, are SCA and Pierre Marie ataxia, [4,9] with genetic testing identifying SCA1 as the culprit in this case.…”

“…[3] In a previously reported SCA1 case series involving heterogeneous intrafamilial expression, subtle and overt maculopathy were found in the presence and absence of ocular symptoms and were attributed to pigmentary macular dystrophy secondary to rod and cone dysfunction. [3,4,13] is finding, coupled with our multimodal imaging results, suggests that assessment of SCA1 patients with macular imaging may be appropriate before the onset of visual symptoms or at the time of initial diagnosis. Specifically, the use of OCT and en-face OCT is the most useful measures in assessing photoreceptor changes and may be used to monitor progressive macular dystrophy.…”

Spinocerebellar Ataxia Type 31 with Blepharospasm

“…In our patient, blepharospasm occurred in the early stage of the disease. Although the association between SCA31 and blepharospasm in our patient is unclear, blepharospasm has also been reported to occur in the early stages of SCA types 1 ( 8 , 9 ) and 3 ( 10 ).…”

Clinical Reasoning: A 28-Year-Old Woman With Vision Loss and an Unusual Gait

“…23 Thus, the combination of pathologically slow saccades and the early visual loss clinch the diagnosis and differentiates this from SCA2, where there is a similar age of onset and early slowing of saccadic eye movements but visual loss does not generally occur, although rare exceptions exist. 14 There are also rare cases of cone-rod dystrophy reported in SCA1, 12 although saccadic slowing generally occurs in advanced disease. 23 This highlights the importance of the ophthalmologist in the diagnosis of SCA7, as ophthalmological features may predate the development of clinical ataxia.…”

Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy

“…[8] Cone dystrophies have been associated with the involvement of several chromosomal loci and genes, not limited to COD2, RCD1 and 2, GUCA1A, RPGR, CNGA3, and CNGB3. [8] Of these, the two progressive manifestations involving symptoms consistent with cerebellar ataxia, such as those in our patient, are SCA and Pierre Marie ataxia, [4,9] with genetic testing identifying SCA1 as the culprit in this case.…”

“…[3] In a previously reported SCA1 case series involving heterogeneous intrafamilial expression, subtle and overt maculopathy were found in the presence and absence of ocular symptoms and were attributed to pigmentary macular dystrophy secondary to rod and cone dysfunction. [3,4,13] is finding, coupled with our multimodal imaging results, suggests that assessment of SCA1 patients with macular imaging may be appropriate before the onset of visual symptoms or at the time of initial diagnosis. Specifically, the use of OCT and en-face OCT is the most useful measures in assessing photoreceptor changes and may be used to monitor progressive macular dystrophy.…”

Spinocerebellar Ataxia Type 31 with Blepharospasm

“…In our patient, blepharospasm occurred in the early stage of the disease. Although the association between SCA31 and blepharospasm in our patient is unclear, blepharospasm has also been reported to occur in the early stages of SCA types 1 ( 8 , 9 ) and 3 ( 10 ).…”

Clinical Reasoning: A 28-Year-Old Woman With Vision Loss and an Unusual Gait

“…23 Thus, the combination of pathologically slow saccades and the early visual loss clinch the diagnosis and differentiates this from SCA2, where there is a similar age of onset and early slowing of saccadic eye movements but visual loss does not generally occur, although rare exceptions exist. 14 There are also rare cases of cone-rod dystrophy reported in SCA1, 12 although saccadic slowing generally occurs in advanced disease. 23 This highlights the importance of the ophthalmologist in the diagnosis of SCA7, as ophthalmological features may predate the development of clinical ataxia.…”

Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy

“…[8] Cone dystrophies have been associated with the involvement of several chromosomal loci and genes, not limited to COD2, RCD1 and 2, GUCA1A, RPGR, CNGA3, and CNGB3. [8] Of these, the two progressive manifestations involving symptoms consistent with cerebellar ataxia, such as those in our patient, are SCA and Pierre Marie ataxia, [4,9] with genetic testing identifying SCA1 as the culprit in this case.…”

“…[3] In a previously reported SCA1 case series involving heterogeneous intrafamilial expression, subtle and overt maculopathy were found in the presence and absence of ocular symptoms and were attributed to pigmentary macular dystrophy secondary to rod and cone dysfunction. [3,4,13] is finding, coupled with our multimodal imaging results, suggests that assessment of SCA1 patients with macular imaging may be appropriate before the onset of visual symptoms or at the time of initial diagnosis. Specifically, the use of OCT and en-face OCT is the most useful measures in assessing photoreceptor changes and may be used to monitor progressive macular dystrophy.…”

Spinocerebellar Ataxia Type 31 with Blepharospasm

“…In our patient, blepharospasm occurred in the early stage of the disease. Although the association between SCA31 and blepharospasm in our patient is unclear, blepharospasm has also been reported to occur in the early stages of SCA types 1 ( 8 , 9 ) and 3 ( 10 ).…”

Clinical Reasoning: A 28-Year-Old Woman With Vision Loss and an Unusual Gait

“…23 Thus, the combination of pathologically slow saccades and the early visual loss clinch the diagnosis and differentiates this from SCA2, where there is a similar age of onset and early slowing of saccadic eye movements but visual loss does not generally occur, although rare exceptions exist. 14 There are also rare cases of cone-rod dystrophy reported in SCA1, 12 although saccadic slowing generally occurs in advanced disease. 23 This highlights the importance of the ophthalmologist in the diagnosis of SCA7, as ophthalmological features may predate the development of clinical ataxia.…”