Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth sign” of the midbrain and a “batwing sign” of...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993624001014 |
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| author | Maram EA Abdalla Elsayed Syed M. Ali Carly Gardner Igor Kozak |
| author_facet | Maram EA Abdalla Elsayed Syed M. Ali Carly Gardner Igor Kozak |
| author_sort | Maram EA Abdalla Elsayed |
| collection | DOAJ |
| description | Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth sign” of the midbrain and a “batwing sign” of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in TMEM67 gene was confirmed by whole exome sequencing. Left eye had nystagmus and the left optic nerve and retina showed epipapillary and subretinal fibrosis, respectively. Scleral buckle was performed for left non-rhegmatogenous retinal detachment which then improved and has been stable. Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity. |
| format | Article |
| id | doaj-art-d45e60d758e44aceb7f2edaf7d9c8712 |
| institution | DOAJ |
| issn | 2451-9936 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj-art-d45e60d758e44aceb7f2edaf7d9c87122025-08-20T02:49:44ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362024-12-013610209110.1016/j.ajoc.2024.102091Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 geneMaram EA Abdalla Elsayed0Syed M. Ali1Carly Gardner2Igor Kozak3Oxford Eye Hospital, Oxford, UKMoorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates; Mohammed Bin Rashed University, Dubai, United Arab EmiratesDepartment of Diagnostic Radiology, Cleveland Clinic, Cleveland, OH, USAMoorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates; Mohammed Bin Rashed University, Dubai, United Arab Emirates; Corresponding author. Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth sign” of the midbrain and a “batwing sign” of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in TMEM67 gene was confirmed by whole exome sequencing. Left eye had nystagmus and the left optic nerve and retina showed epipapillary and subretinal fibrosis, respectively. Scleral buckle was performed for left non-rhegmatogenous retinal detachment which then improved and has been stable. Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity.http://www.sciencedirect.com/science/article/pii/S2451993624001014Joubert syndrome type 6TMEM67 geneMolar tooth signBatwing signSubretinal fibrosisEpipapillary fibrosis |
| spellingShingle | Maram EA Abdalla Elsayed Syed M. Ali Carly Gardner Igor Kozak Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene American Journal of Ophthalmology Case Reports Joubert syndrome type 6 TMEM67 gene Molar tooth sign Batwing sign Subretinal fibrosis Epipapillary fibrosis |
| title | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene |
| title_full | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene |
| title_fullStr | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene |
| title_full_unstemmed | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene |
| title_short | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene |
| title_sort | novel ocular observations in a child with joubert syndrome type 6 due to pathogenic variant in tmem67 gene |
| topic | Joubert syndrome type 6 TMEM67 gene Molar tooth sign Batwing sign Subretinal fibrosis Epipapillary fibrosis |
| url | http://www.sciencedirect.com/science/article/pii/S2451993624001014 |
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