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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

ABSTRACT: We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical symptoms alone can make it difficult to make a correct diagnosis. In addition, the genes responsible for developmental delay, among others, are not well understood. Developmental delay, in this case, might be caused due to NEUROG2 haploinsufficiency. In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications.

SUBMITTER: Kawanami Y

PROVIDER: S-EPMC9935865 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

Kawanami Yukino Y Horinouchi Tomoko T Morisada Naoya N Kato Takeshi T Nozu Kandai K

Case reports in genetics 20230209

We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical sympto ...[more]

PMID: 36816813

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Project description:BACKGROUND:The surgical management of glaucoma associated with Axenfeld-Rieger Syndrome (ARS) is poorly described in the literature. The goal of this study is to compare the effectiveness of various glaucoma surgeries on intraocular pressure (IOP) management in ARS. METHODS:Retrospective cohort study at a university hospital-based practice of patients diagnosed with ARS between 1973 and 2018. Exclusion criterion was follow-up less than 1?year. The number of eyes with glaucoma (IOP???21?mmHg with corneal edema, Haabs striae, optic nerve cupping or buphthalmos) requiring surgery was determined. The success and survival rates of goniotomy, trabeculotomy±trabeculectomy (no antifibrotics), cycloablation, trabeculectomy with anti-fibrotics, and glaucoma drainage device placement were assessed. Success was defined as IOP of 5-20?mmHg and no additional IOP-lowering surgery or visually devastating complications. Kaplan-Meier survival curves and the Wilcoxon test were used for statistical analysis. RESULTS:In 32 patients identified with ARS (median age at presentation 6.9?years, 0-58.7?years; median follow-up 5.4?years, 1.1-43.7?years), 23 (71.9%) patients were diagnosed with glaucoma at median age 6.3?years (0-57.9?years). In glaucomatous eyes (46 eyes), mean IOP at presentation was 21.8?±?9.3?mmHg (median 20?mmHg, 4-45?mmHg) on 1.0?±?1.6 glaucoma medications. Thirty-one eyes of 18 patients required glaucoma surgery with 2.2?±?1.2 IOP-lowering surgeries per eye. Goniotomy (6 eyes) showed 43% success with 4.3?±?3.9?years of IOP control. Trabeculotomy±trabeculectomy (6 eyes) had 17% success rate with 14.8?±?12.7?years of IOP control. Trabeculectomy with anti-fibrotics (14 eyes) showed 57% success with 16.5?±?13.5?years of IOP control. Ahmed© (FP7 or FP8) valve placement (8 eyes) had 25% success rate with 1.7?±?1.9?years of IOP control. Baerveldt© (250 or 350) device placement (8 eyes) showed 70% success with 1.9?±?2.3?years of IOP control. Cycloablation (4 eyes) had 33% success rate with 2.7?±?3.5?years of IOP control. At final follow-up, mean IOP (12.6?±?3.8?mmHg, median 11.8?mmHg, 7-19?mmHg) in glaucomatous eyes was significantly decreased (p?<?0.0001), but there was no difference in number of glaucoma medications (1.6?±?1.5, p?=?0.1). CONCLUSIONS:In our series, greater than 70% of patients with ARS have secondary glaucoma that often requires multiple surgeries. Trabeculectomy with anti-fibrotics and Baerveldt glaucoma drainage devices showed the greatest success in obtaining IOP control.

Dataset Information

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

Publications

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

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