An Approach to Visual Loss in a Child
Vivek Lal in A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Any child who presents with photophobia, lacrimation and blepharospasm should be strongly suspected to have congenital glaucoma unless proved otherwise. Glaucoma in children usually occurs due to angle dysgenesis and is often associated with other congenital ocular abnormalities like Peter's and Rieger's anomaly (37,38). All children with congenital glaucoma should undergo regular testing for IOP, corneal diameter, anterior segment examination, cup to disc ratio and axial length measurement. Out of all these parameters, the corneal diameter is the most reliable indicator of severity of the glaucoma in children. A corneal diameter of greater than 14 mm indicates advanced buphthalmos and an advanced stage of the disease. Another characteristic feature of infantile glaucoma is the possibility of reversal of cup to disc ratio once pressure of the eye is controlled. Infantile glaucoma if not treated early may cause complete blindness in children. The treatment of choice is mostly surgical with goniotomy performed in eyes with clear corneas and angle filtration surgery preferred in eyes with hazy corneas (39). Complicated cases with failed filtration surgeries are usually treated with glaucoma shunt devices (40). Lastly, clinicians should always offer genetic counseling to the parents if more than one sibling gets affected.
Cerebral Angiomas Presenting with Seizures
Stanley R. Resor, Henn Kutt in The Medical Treatment of Epilepsy, 2020
In the Sturge-Weber syndrome of encephalofacial angiomatosis, there is a piai vascular malformation. The malformation causes ischemia, resulting in anoxia, of the underlying brain, and this leads to neuronal death and deposition of calcium. The calcification may outline the gyri of the occipital or parietal region. Most patients have a contralateral hemiparesis, seizures, and mental retardation, and there may be an associated buphthalmos. The seizures may be focal or generalized and may be difficult to control pharmacologically. The associated skin lesion (which occasionally is absent) is said to involve the territory of one or more divisions of the trigeminal nerve and may be unilateral or bilateral. Similarly, there have been occasional reports of bilateral rather than unilateral cerebral involvement.
Glaucoma
Mary E. Shaw, Agnes Lee in Ophthalmic Nursing, 2018
Buphthalmos is a rare congenital condition affecting one in 10,000 births and resulting in increased intraocular pressure caused by a defect or blockage of the drainage angle by an embryonic membrane. Occasionally, the canal of Schlemm is absent. Forty percent have raised intraocular pressures in utero, 50% manifest in the first year of life, and 10% manifest between the first and third year of life.
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae
Published in Ophthalmic Genetics, 2022
Akshaya L. Thananjeyan, Tanya Karaconji, Maree Flaherty, Sophia Zagora, Robyn V. Jamieson, John R. B. Grigg
Our patient, on initial presentation, was conservatively managed until developing unilateral right-sided ocular hypertension. It has been previously proposed that globe enlargement in NF1 may not solely be attributed to ocular hypertension or glaucoma, as in cases with regional gigantism, ocular overgrowth can play a significant role in its manifestation (6). Hoyt et al. (6) documented a case of enlarging buphthalmos in a patient with NF1 and hemifacial hypertrophy with only moderately elevated IOP, attributing globe enlargement to additional factors including ocular gigantism and generalized hyperplasia of the orbit while drawing parallels to how regional gigantism affected surrounding structures. Similar to our patient, clinically evident buphthalmos preceded facial hemihypertrophy.
Identification of PITX3 mutations in individuals with various ocular developmental defects
Published in Ophthalmic Genetics, 2018
Celia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, Caroline Michot, Jacmine Pechmeja, Julian Delanne, Edouard Cottereau, Carmen Ayuso, Marta Corton, Patrick Calvas, Nicola Ragge, Nicolas Chassaing
Family 2, homozygous c.669del [p.(Leu225Trpfs*84)] mutation: A consanguineous family from Iraq (Figure 1(b)) was ascertained due to the proband, II:1, having bilateral congenital sclerocornea and ASMD, identified on neonatal screening. No ocular abnormalities were detected in her dizygotic twin, II.2. They were born prematurely (27 weeks of gestation, 960 g) by caesarean section. Transthoracic, transfontanelle, and abdominal ultrasound examinations did not reveal anomalies. No infection was reported during pregnancy. At 14 months of age, the proband was unable to sit unaided. At that time, her length was 72.5 cm (−0.75 SD), weight was 8.85 kg (−0.5 SD), and OFC was 44.5 cm (−0.1 SD). She had plagiocephaly, metopic ridge and a thin upper lip, as well as broad thumbs and clinodactyly of the 5th finger. At two years of age, the index case developed bilateral buphthalmos. At that time, wearing glasses, she could follow the movement of bright objects. Her mother, I.1, presented with nasal and temporal posterior embryotoxon in the right eye and temporal posterior embryotoxon in the left eye. Her father, I:2, presented with congenital bilateral cataract associated with nasal posterior embryotoxon in the left eye. Her twin brother had nasal posterior embryotoxon in the left eye. Her father reported that his two siblings presented early onset cataract-like symptoms. The index’s parents were first cousins.
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations
Published in Ophthalmic Genetics, 2018
Thomas J. Wubben, Kari H. Branham, Cagri G. Besirli, Brenda L. Bohnsack
Although rarely reported, five eyes of three patients were diagnosed with infantile-onset glaucoma in this series (Table 3). The age of diagnosis in these patients was 3 weeks, 3 months, and 1 year. All eyes with infantile-onset glaucoma presented with buphthalmos and corneal edema; the latter of which prevented adequate gonioscopic examination. The mean axial length of these eyes was 30.1 mm, and the average intraocular pressure (IOP) prior to first glaucoma procedure was 28.9 ± 4.1 mmHg. The spherical equivalent of those eyes diagnosed with infantile-onset glaucoma was significantly greater than those eyes without infantile-onset glaucoma (−19.6 ± 2.5 versus −8.3 ± 4.9, p < 0.001). All of these eyes required surgical intervention beyond angle surgery (trabeculotomy) with a mean number of 5.4 glaucoma procedures. Three of the eyes diagnosed with infantile-onset glaucoma also experienced a RD and became phthisical during follow-up. The two eyes that did not become phthisical at last follow-up had visual acuities of 20/70 and 20/100, with IOP in the mid-teens on multiple ocular antihypertensive medications (Table 1 in the Supplement).
Related Knowledge Centers
- Glaucoma
- Photophobia
- Optic Disc
- Edema
- Haab'S Striae
- Descemet'S Membrane
- Primary Juvenile Glaucoma
- Cornea
- Iris
- Aqueous Humour