Achondroplasia and macular coloboma

Ahoor, Mohamadhosein; Amizadeh, Yashar; Sorkhabi, Rana

doi:10.4103/0974-9233.167819

Cited by 8 publications

(4 citation statements)

References 5 publications

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“…Ahoor et al . [ 8 ] reported in a 24-year-old man with achondroplasia a well-demarcated circular paramacular coloboma in both eyes.…”

Section: Discussionmentioning

confidence: 99%

“…Ophthalmic features in Achandroplasia are rare. But reported Ocular association with achondroplasia include [as in Table 1 ] simple microphthalmos,[ 4 ] congenital-onset glaucoma with presumed Axenfeld–Rieger anomaly,[ 5 ] telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy,[ 6 ] fundus albipunctatus,[ 7 ] chorioretinal coloboma, macular coloboma,[ 8 ] keratoconus,[ 9 ] and developmental cataract. [ 10 , 11 ]…”

Section: Introductionmentioning

confidence: 99%

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Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Kishore

2023

Oman J Ophthalmol

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Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld–Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management.

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“…Ahoor et al . [ 8 ] reported in a 24-year-old man with achondroplasia a well-demarcated circular paramacular coloboma in both eyes.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Kishore

2023

Oman J Ophthalmol

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“…The combination of macular coloboma with other systemic diseases, such as apical dystrophy of the hands and feet, achondroplasia, and retinitis pigmentosa, and so on, was commonly reported in these patients. [ 4 , 10 , 11 ] The second reason for this disease was considered to be an intrauterine infection. [ 3 ]…”

Section: Discussionmentioning

confidence: 99%

Bilateral congenital macular coloboma and cataract

Zhang

Wang

et al. 2019

Medicine

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Rationale:The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease.Patient concerns:An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case.Diagnosis:Congenital macular coloboma and cataract of both eyes.Interventions:We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly.Outcomes:Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient.Lessons:Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract.

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“…Coloboma is an ocular congenital defect that can affect different areas of the eye such as the iris, the retina, the choroid, the lens or the optic nerve [ 1 ]. Meanwhile, macular coloboma is an atypical coloboma that is hypothesized to be the result of incomplete differentiation of the arcuate bundle along the horizontal raphe during development [ 2 ]. Macular coloboma is a rare eye condition that may affect about 0.5-0.7/10,000 live births [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Optical Coherence Tomographic Finding in a Case of Congenital Macular Coloboma at King Abdulaziz University Hospital, Jeddah

Mandura¹,

Radi²

2021

Cureus

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Macular coloboma is a rare eye condition that affects around 0.5-0.7/10,000 of live births. Macular coloboma appears as a well-demarcated atrophic lesions that could affect one eye or both eyes on fundus examination. This is a case of a 33-year-old male patient who presented to the outpatient clinic with a history of poor vision in the left eye since childhood. He had a history of strabismus surgery for sensory exotropia (XT) in the left eye. Anterior segment examination of both eyes was normal while the fundus examination of both eyes revealed bilateral chorioretinal lesions in the macula which was larger in the left eye (OS) than the right eye (OD), representing bilateral chorioretinal coloboma. Congenital coloboma is a rare eye condition that leads to non-progressive decrease in visual acuity. Optical coherence tomography (OCT) is the modality of choice in diagnosing and describing macular coloboma.

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Achondroplasia and macular coloboma

Cited by 8 publications

References 5 publications

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child

Bilateral congenital macular coloboma and cataract

Optical Coherence Tomographic Finding in a Case of Congenital Macular Coloboma at King Abdulaziz University Hospital, Jeddah

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