The clinical evaluation of infantile nystagmus: What to do first and why

Bertsch, Morgan; Floyd, Michael S.; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V.

doi:10.1080/13816810.2016.1266667

Cited by 49 publications

(27 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Nystagmus was observed in dogs and cats with a median age of diagnosis of 6 and 76 months, respectively. Nystagmus can be considered a condition itself or a clinical sign 81 . Congenital nystagmus, typically pendular, seems to be due to congenital blindness or to visual deficits which can be secondary to concurrent congenital ocular abnormalities 82,83 .…”

Section: Discussionmentioning

confidence: 99%

Congenital ocular malformations in dogs and cats: 123 cases

Saraiva

Delgado

2020

Veterinary Ophthalmology

View full text Add to dashboard Cite

Objective Provide epidemiological data regarding the prevalence of congenital ocular malformations in dogs and cats. Animals studied A population of 32 974 dogs and 13 977 cats that presented for consultation at the veterinary teaching hospital. Procedures Medical records from 2011 to 2018 were reviewed. A retrospective and prospective epidemiological clinical study addressing congenital ocular malformations was conducted. Signalment, medical history, reason for presentation, clinical findings, vision impairment, and treatment options were analyzed. Results From the total of cases analyzed, 103 dogs (0.3%) and 20 cats (0.1%) met the inclusion criteria. The majority of dogs were mixed breed, the most common breed being the French Bulldog, while the majority of cats were European domestic shorthair. The median age of diagnosis was 12 months for dogs and 6 months for cats. Sex predisposition was not found. The most frequently identified abnormalities were as follows: congenital cataract (dogs: 31.1%; cats: 30.0%), microphthalmia (dogs: 35.0%, cats: 25.0%), and persistent pupillary membrane (dogs: 27.2%, cats: 40.0%). Some of the concurrently observed malformations were significantly associated. A statistically significant association was found between ocular dermoids and the French Bulldog breed (P < .001). Conclusions Even though congenital ocular malformations are uncommon, knowledge about their prevalence is important, since they can cause vision impairment or even blindness. Moreover, some human ocular disease phenotypes are similar to the ones presented by dogs and cats, so they can be used as models to investigate pathophysiology and therapeutic approaches.

show abstract

Section: Discussionmentioning

confidence: 99%

Congenital ocular malformations in dogs and cats: 123 cases

Saraiva

Delgado

2020

Veterinary Ophthalmology

View full text Add to dashboard Cite

show abstract

“…We also thought that TUBB3 and TUBA1A genes should be included in the targeted panel of infantile nystagmus. In general, a brain MRI has a low diagnostic yield for patients with infantile nystagmus in the absence of other neurologic signs or symptoms [ 34 ]. However, as in this case, an accurate molecular diagnosis will enable clinicians to determine whether a brain MRI is necessary or not.…”

Section: Discussionmentioning

confidence: 99%

TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Jin

Park

Won

et al. 2021

Genes

View full text Add to dashboard Cite

Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M323V) variant in the TUBB3 gene, who had only infantile nystagmus without other ophthalmological abnormalities. Subsequent brain magnetic resonance imaging (MRI) revealed cortical dysplasia. Neurological examinations did not reveal gross or fine motor functions, which are inconsistent with the clinical characteristics of patients with the M323V syndrome reported so far. A protein modeling showed that the M323V mutation in the TUBB3 gene interferes with αβ heterodimer formation with the TUBA1A gene. This report emphasizes the importance of considering TUBB3 and TUBA1A tubulinopathy in infantile nystagmus. A brain MRI should also be considered for these patients, although in the absence of other neurologic signs or symptoms.

show abstract

“…The most common initial test for children with nystagmus is brain MRI; however, the most common cause of infantile nystagmus is a retinal disorder. 19 Ideally, children presenting with isolated nystagmus should undergo complete ophthalmic examination, ERG, OCT, and molecular genetic testing. 12 Unfortunately, the use of ERG may be limited by the risks and costs of sedation for young children requiring EUA, limited access, and lack of insurance coverage.…”

Section: Discussionmentioning

confidence: 99%

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

Etheridge

Kellom

Sullivan

et al. 2020

American Journal of Ophthalmology Case Reports

View full text Add to dashboard Cite

Purpose We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. Observations The first case is of a 2-year-old boy with history of spasmus nutans who presented with head bobbing and nystagmus. The second patient is a 5-year-old boy with history of infantile dilated cardiomyopathy status post heart transplant, Burkitt lymphoma status post chemotherapy, obesity, global developmental delay, and high hyperopia previously thought to have cortical visual impairment secondary to heart surgery/possible ischemic event. This patient presented with nystagmus, photophobia, and reduced vision. The third case involves a 8-year-old boy with history of obesity, bilateral optic nerve atrophy, hyperopic astigmatism, exotropia, and nystagmus. Upon presentation to the consulting pediatric ophthalmologist, none of the patients had yet been diagnosed with ALMS. All 3 cases were subsequently found to have an electroretinogram (ERG) that exhibited severe global depression and to carry ALMS1 pathogenic variants. Conclusions and Importance ALMS is an autosomal recessive disease caused by ALMS1 variations, characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing loss, cardiomyopathy, insulin resistance, and multiorgan dysfunction. Retinal dystrophy diagnosis is critical given clinical criteria and detection rates of genetic testing. Early diagnosis is extremely important because progression to flat ERG leads to the inability to differentiate between rod-cone or cone-rod involvement, either of which have their own differential diagnoses. In our series, the ophthalmic exam and abnormal ERG prompted further genetic testing and the subsequent diagnosis of ALMS. Multidisciplinary care ensures the best possible outcome with the ophthalmologist playing a key role.

show abstract

The clinical evaluation of infantile nystagmus: What to do first and why

Cited by 49 publications

References 44 publications

Congenital ocular malformations in dogs and cats: 123 cases

Congenital ocular malformations in dogs and cats: 123 cases

TUBB3 M323V Syndrome Presents with Infantile Nystagmus

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

Contact Info

Product

Resources

About