Ocular Manifestations of the Pierre Robin Syndrome

Maculopathy in Pierre Robin Sequences

“…The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment. 5,6 None of them were present in this case, despite the hypopigmentation of the macula. Further study is required to characterize the gene defects and etiologic factors underlying these heterogeneous ophthalmic phenotypes of PRS.…”

“…This reveals a variable association of maculopathy with PRS. The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment 5,6. None of them were present in this case, despite the hypopigmentation of the macula.…”

“…4 Ocular manifestations include myopia, strabismus, glaucoma, microphthalmos, cataract, retinal detachment, and nasolacrimal duct obstruction. 5,6 Our patient was born at 38 weeks' gestation, via planned cesarean section, to a 39-year-old gravida 3, para 2 woman. There was no known family history of disease.…”

Maculopathy in Pierre Robin Sequences

“…The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment. 5,6 None of them were present in this case, despite the hypopigmentation of the macula. Further study is required to characterize the gene defects and etiologic factors underlying these heterogeneous ophthalmic phenotypes of PRS.…”

“…This reveals a variable association of maculopathy with PRS. The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment 5,6. None of them were present in this case, despite the hypopigmentation of the macula.…”

“…4 Ocular manifestations include myopia, strabismus, glaucoma, microphthalmos, cataract, retinal detachment, and nasolacrimal duct obstruction. 5,6 Our patient was born at 38 weeks' gestation, via planned cesarean section, to a 39-year-old gravida 3, para 2 woman. There was no known family history of disease.…”

Peripheral Retinal Vasculopathy in Childhood Glaucoma

“…Genetic factors and/or developmental anomalies may play more of a role in the patients with primary congenital glaucoma, as well as in those with Rubinstein-Taybi syndrome and Pierre Robin sequence, both of which are associated with congenital glaucoma. 13,14 Perhaps, there are shared signaling pathways that involve both optic nerve development and retinal angiogenesis. Previous studies have linked molecules involved in axonal development with vascular remodeling and vessel guidance.…”

Bilateral maculopathy associated with Pierre Robin sequence

“…6 Ocular complications associated with PRS include myopia, strabismus, M€ obius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. 7 The association of maculopathy with PRS appears to be quite rare. Two previous reports of series of patients with PRS, including one with 7 cases 7 and a second with 39 cases, 8 included no patients with recognized maculopathy.…”

Maculopathy in Pierre Robin Sequences

“…The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment. 5,6 None of them were present in this case, despite the hypopigmentation of the macula. Further study is required to characterize the gene defects and etiologic factors underlying these heterogeneous ophthalmic phenotypes of PRS.…”

“…This reveals a variable association of maculopathy with PRS. The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment 5,6. None of them were present in this case, despite the hypopigmentation of the macula.…”

“…4 Ocular manifestations include myopia, strabismus, glaucoma, microphthalmos, cataract, retinal detachment, and nasolacrimal duct obstruction. 5,6 Our patient was born at 38 weeks' gestation, via planned cesarean section, to a 39-year-old gravida 3, para 2 woman. There was no known family history of disease.…”

Peripheral Retinal Vasculopathy in Childhood Glaucoma

“…Genetic factors and/or developmental anomalies may play more of a role in the patients with primary congenital glaucoma, as well as in those with Rubinstein-Taybi syndrome and Pierre Robin sequence, both of which are associated with congenital glaucoma. 13,14 Perhaps, there are shared signaling pathways that involve both optic nerve development and retinal angiogenesis. Previous studies have linked molecules involved in axonal development with vascular remodeling and vessel guidance.…”

Bilateral maculopathy associated with Pierre Robin sequence

“…6 Ocular complications associated with PRS include myopia, strabismus, M€ obius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. 7 The association of maculopathy with PRS appears to be quite rare. Two previous reports of series of patients with PRS, including one with 7 cases 7 and a second with 39 cases, 8 included no patients with recognized maculopathy.…”

Maculopathy in Pierre Robin Sequences

“…The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment. 5,6 None of them were present in this case, despite the hypopigmentation of the macula. Further study is required to characterize the gene defects and etiologic factors underlying these heterogeneous ophthalmic phenotypes of PRS.…”

“…This reveals a variable association of maculopathy with PRS. The most common ophthalmic findings in PRS are myopia, strabismus, glaucoma, microphthalmos, cataract, and retinal detachment 5,6. None of them were present in this case, despite the hypopigmentation of the macula.…”

“…4 Ocular manifestations include myopia, strabismus, glaucoma, microphthalmos, cataract, retinal detachment, and nasolacrimal duct obstruction. 5,6 Our patient was born at 38 weeks' gestation, via planned cesarean section, to a 39-year-old gravida 3, para 2 woman. There was no known family history of disease.…”

Peripheral Retinal Vasculopathy in Childhood Glaucoma

“…Genetic factors and/or developmental anomalies may play more of a role in the patients with primary congenital glaucoma, as well as in those with Rubinstein-Taybi syndrome and Pierre Robin sequence, both of which are associated with congenital glaucoma. 13,14 Perhaps, there are shared signaling pathways that involve both optic nerve development and retinal angiogenesis. Previous studies have linked molecules involved in axonal development with vascular remodeling and vessel guidance.…”

Bilateral maculopathy associated with Pierre Robin sequence

“…6 Ocular complications associated with PRS include myopia, strabismus, M€ obius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. 7 The association of maculopathy with PRS appears to be quite rare. Two previous reports of series of patients with PRS, including one with 7 cases 7 and a second with 39 cases, 8 included no patients with recognized maculopathy.…”