1- Unilateral facial cutaneous angioma, hemiplegia, and glaucoma
|
A 1-year-old boy has a unilateral facial cutaneous angioma, hemiplegia, and glaucoma. What is the most likely diagnosis?
|
Discussion:
Glaucoma is associated with several of the conditions that comprise the phakomatoses. The phakomatoses are a group of disorders characterized by inheritability with variable penetrance and the formation of hamartias and hamartomas in multiple organs including the eye.
In tuberous sclerosis, common manifestations include adenoma sebaceum, shagreen patch, “ash leaf” spot on the skin, epilepsy, and mental deficiency due to intracranial calcified hamartomas. Ocular features include peripapillary astrocytic hamartomas and sebaceous adenomas of the eyelid. Glaucoma very rarely occurs and typically arises secondary to retinal complications such as vitreous hemorrhage or retinal detachment.
Neurofibromatosis is an autosomal dominant neurocutaneous disorder characterized by abnormal proliferations of peripheral nerve elements. Typical clinical features include neurofibromas, cafe-au-lait spots, intracranial calcifications, and central nervous system tumors. Ocular findings include plexiform neuromas of the eyelids, optic nerve glioma, and retinal hamartomas. Glaucoma is an occasional problem in neurofibromatosis.
Individuals with oculodermal melanocytosis (nevus of Ota) typically show unilateral deep dermal pigmentation involving the first and second division of the trigeminal nerve. Usually, the ipsilateral eye shows hyperpigmentation of the sclera, conjunctiva, iris, or fundus. Unilateral glaucoma in the involved eye is common and can be either open-angle or acute angle-closure glaucoma.
The cutaneous angioma of Sturge-Weber (encephalotrigeminal angiomatosis) syndrome also occurs unilaterally along the first and second divisions of the trigeminal nerve. However, in contrast to the hyperpigmentation of the nevus of Ota, the cutaneous angioma consists of loosely arranged, dilated capillaries in the dermis and subcutaneous tissue and typically appears burgundy colored (port-wine stain). The meningeal hemangioma usually occurs on the same side as the facial angioma and frequently causes mental deficiency and seizures, which can lead to hemiparesis, hemiplegia, and homonymous hemianopsia. Common ocular findings include diffuse choroidal hemangioma and glaucoma, both congenital and adult-onset. The etiology of the glaucoma is not well understood, but might be due to a combination of developmental angle anomalies and elevated episcleral venous pressure.
2- Pediatrician treating 10-year-old girl for conjunctivitis
| rheumatologic consultation to begin cytotoxic immunosuppressive agents | |
| topical prednisolone 1% every 2 hours and homatropine 2% twice a day | |
| subconjunctival injection of triamcinolone | |
| high-dose oral prednisone | |
Discussion:
This patient has acute anterior uveitis. A uveitis of recent onset is most likely to reduce vision because of associated cystoid macular edema. Treatment should begin with frequent topical corticosteroids and cycloplegia. The topical corticosteroids are very effective in reducing anterior chamber inflammation and should be tapered only when the reaction is nearly completely resolved. The cycloplegic agent reduces the photophobia and the risk of progressive posterior synechiae formation. Sub-Tenon’s injections of triamcinolone are sometimes given for cystoid macular edema or severe uveitis refractory to topical medication, but subconjunctival injections are not. It is wise to first start a course of topical corticosteroids to see whether the cystoid macular edema resolves or she is among those patients who could have a rise in intraocular pressure with periocular corticosteroids. Oral prednisone and cytotoxic agents are reserved for patients with recalcitrant, vision-threatening uveitis.
3- a 15-month-old child with bilateral retinoblastoma
|
The pregnant mother of a 15-month-old child with bilateral retinoblastoma asks about the chances of her unborn baby also developing the condition. What is the most appropriate answer to her question?
|
Retinoblastoma is caused by a mutation of the RB1 gene, located on chromosome 13. Calculating the risk of recurrence of the disease in any individual family is complicated by many special features of its genetic transmission.
Although it is a genetically recessive trait (both copies of the RB1 gene must be mutated to cause retinoblastoma), it is phenotypically dominant because of a relatively high spontaneous mutation rate of the remaining normal allele in retinal tissue of patients who have inherited only one copy of the mutant gene.
The penetrance (chance of developing retinoblastoma when a mutant RB1 gene is inherited) is only about 80%. In addition, 94% of cases represent new mutations, 75% of which are somatic and not inheritable, presenting as unilateral, solitary tumors, and 25% of which are germline and potentially transmissible, presenting as bilateral, multifocal tumors.
Furthermore, a small percentage of patients with unilateral, solitary tumors has germline mutations and is likely to pass the mutation on to offspring.
Because of this complexity, further information, especially additional family history and a thorough retinal exam of both parents for regressed retinoblastoma or retinoma, is required to establish the likelihood that these parents are carrying a genetically transmittable mutant RBI gene.
Based on this information, the risk of recurrence can be calculated by studying published tables in consultation with a geneticist or genetic counselor. In the situation presented, assuming the retinal exam of the parents is normal, the chance of the unborn child being affected by retinoblastoma is 40% if there is a positive family history in addition to the sibling, and only 6% if no other family members are affected.
4- Severe pain and loss of vision in the right eye
| glaucoma filtering surgery | |
| laser peripheral iridotomy | |
| observation to see if angle closure recurs | |
| topical pilocarpine therapy to prevent angle closure |
Discussion:
5- Topical anesthetic agents
| conjunctiva and cornea | |
| conjunctiva and ciliary muscle | |
| cornea and iris | |
| conjunctiva and dilator muscle |
Discussion:
6- Two months after a car accident…
| a | ptosis |
| b | paradoxical contracture |
| c | induced vertical deviation |
| d | globe perforation |
Discussion:
| a | bicanalicular intubation of the nasolacrimal duct |
| b | bicanalicular intubation with dacrocystorhinostomy |
| c | bicanalicular ring intubation with pigtail probe |
| d | monocanalicular intubation |
Discussion:
Congenital nasolacrimal obstruction is most commonly caused by membranous obstruction of the distal nasolacrimal duct at the level of the valve of Hasner.
Less common are membranous obstructions that occur within the more proximal nasolacrimal duct and less commonly still the canalicular system.
While obstructions of the nasolacrimal duct are effectively treated in 97% of cases by probing alone at between 6 and 18 months of age, canalicular membranes are less likely to remain patent after probing.
Consequently, probing with silastic intubation of the involved canaliculi is more likely to result in long-term patency.
In this case, both upper and lower canaliculi are involved. Consequently, a bicanalicular stent of both the canaliculi and duct are indicated.
A monocanalicular stent would not address one of the two canalicular obstructions, and a pigtail probe would not stent the duct obstruction.
Dacryocystorhinostomy is required only for a nasolacrimal obstruction that fails to respond to silastic intubation or is found to be bony in nature at the time of the initial probing.
7- Diagnose This: Blurred vision OU after bilateral cataract surgery
| reduced color vision | |
| metamorphopsia on Amsler grid testing | |
| arcuate defects on visual field testing | |
| normal IOP |
Discussion:
8- Eye fatigue and intermittently blurred vision at near
1- the presence of cataract
2- contrast sensitivity
Discussion:
The patient’s complaints are consistent with a deficiency of accommodative amplitude. With presbyopia, the accommodative response decreases due to a loss of lens elasticity, and patients often complain of eye fatigue and blurred vision at near.
Presence of a cataract would not give intermittent blurred vision and is not typically associated with eye fatigue or isolated problems with near vision.
Examining pupil function would provide information on the status of the optic nerve by checking for an afferent pupillary defect (APD). A compromised optic nerve would not usually be associated with this patient’s symptoms. Assessing pupil function might also provide an explanation for photophobia in someone with mydriasis.
Testing contrast sensitivity, for example with the Pelli-Robson chart, is usually done by spatial frequency and looks at a patient’s ability to distinguish between light and dark bands of varying size and contrast. A decrease in contrast sensitivity can be seen with numerous disorders such as
- Corneal pathology
- Cataracts
- Glaucoma
- Retinal disorders
Measuring the patient’s contrast sensitivity in the case presented here would not add any useful information that might explain his complaints.
9- Transient bilateral visual loss after position changes
1- neurosurgical consultationCorrect
2- lumbar puncture
3- optic nerve sheath fenestration
Discussion:
10- Consenting a patient for pan-retinal photocoagulation
|
When consenting a patient for panretinal photocoagulation, what common potential complications should be discussed?
|
AL-Salem Eye Clinic 