ABSTRACT
PURPOSE: This study reports parental attitudes towards preimplantation genetic diagnosis (PGD) and their satisfaction with genetic counseling services offered by a territory eye care hospital in Saudi Arabia. METHODS: This was a cross-sectional study of 30 parents (either father or mother) of children affected by recessive genetic ocular disorders. Their basic knowledge of recessive genetic disorders, attitude toward PGD, and satisfaction with counseling services were assessed using structured telephonic interviews. RESULTS: Eighty percent of the participants understood the concept of recessive inheritance patterns and the effect of consanguineous marriages on raising the likelihood of giving birth to a child with genetic disorders. Forty-seven percent of parents understood the risk of having an affected future offspring. Sixty-seven percent of them mentioned that they would consider using preventive measures when conceiving next time. Seventy-three percent of participants stated that they would share the genetic test results with family members. Ninety percent of the parents were satisfied with the genetic counselor's ability to listen to them and the way the counselor explained the genetic information. There was a statistically significant association between parental willingness to share genetic test results with relatives and being given the opportunity to share information with their genetic counselor (P = 0.01). There was no association between the parental's knowledge and their willingness to consider using preventative measures in the next pregnancy. CONCLUSION: Most parents had a basic understanding of recessive disease. However, they often struggled to comprehend the science and mathematical probabilities determining the recurrence risk in future pregnancies. This complexity makes it difficult for them to recall the information. Attitude toward PGD did not seem to be related with parent knowledge. A significant proportion of the parents expressed willingness to share their genetic test results with relatives, but some were hesitant due to fears of stigma. Most parents were satisfied with genetic counseling services.
ABSTRACT
BACKGROUND: We describe a case of an infant with Arnold-Chiari Malformation Type II (ACM-II) who was born with lumbosacral myelomeningocele, hydrocephalus, and primary congenital glaucoma (PCG) together with dysmorphic features (scaphocephaly, frontal bossing, hypotelorism, entropion, and flat nasal bridge), which according to our knowledge, is a combination that has yet to be described in literature. Primary diagnosis. A 2-year-old female who is known to have ACM-II was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. Findings. During her last physical exam (postop), she was vitally stable, conscious with good feeding. Ophthalmic assessment revealed buphthalmia, superior paracentral scar, deep anterior chambers (AC), and round pupils with positive red reflex, clear lens, and an IOP of 16, 14 mm Hg, respectively. Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation. CONCLUSION: The aim of reporting this case is to share the findings in this infant as it may be a new association. The main learning message here is that ACM-II patients may present with certain ocular symptoms, including glaucoma-related ones that may mimic neurological disorders. This report brings information that could alert general practitioners, neurologists, and neurosurgeons. A deeper understanding of this rare disorder may aid the diagnosis of cases with similar characteristic physical findings by referring them to an ophthalmology clinic for further evaluation. Case presentation. A 2-year-old female who is known to have Arnold Chiari Malformation Type II (ACM- II) was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. MRI at 3 months of age showed lumbosacral myelomeningocele and hydrocephalus. Genetic testing confirmed a CYP1B1 mutation. These combinations of symptoms were never described in the literature before.
