Journal of Pediatric Ophthalmology and Strabismus

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Ocular Abnormalities in a Patient With Rothmund-Thomson Syndrome

Christopher Lin, MD; Gregg T Lueder, MD; Michael A Kass, MD

Abstract

INTRODUCTION

Rothmund-Thomson syndrome (RTSJ is a rare inherited disorder characterized by infantile poikiloderma, cataracts, hypogonadism, and skeletal abnormalities. Bilateral infantile glaucoma, pseudodistichiasis, iris stromal hypoplasia, and a persistent pupillary membrane are described in a patient with RTS. This is the first case of pseudodistichiasis and persistent pupillary membrane and the second case of glaucoma to be associated with RTS. The glaucoma in one eye of our patient was successfully controlled following a trabeculotomy. The ophthalmic abnormalities associated with RTS are reviewed.

CASE REPORT

The patient was diagnosed with glaucoma at age 3 years. The vision was always poor by history in the left eye. Her intraocular pressures (IOP) were 35 mm Hg OD and 29 mm Hg OS, and she had almost complete cupping of the left optic nerve. Trabeculotomies were performed in both eyes.

She was referred to our institution at age 4 years after her IOP by pneumotonometry was measured at 22 mm Hg OD and 35 mm Hg OS. An examination under anesthesia was performed, at which time her IOP by Perkins tonometry was 10 mm Hg and 17 mm Hg OS. Cycloplegic refraction revealed an error of -3.0 + 1.5 x 90° OD and - 4.5 sphere OS. Corneal diameters were 10.5 mm OU and breaks in Descemet membrane were found. Gonioscopy revealed normal angles in both eyes and slit-lamp microscopic examination showed iris stromal hypoplasia with prominent iris vessels. Her cup-to-disc ratio was 0.50 OD and 0.95 OS. Because her IOP levels were normal, she was referred back to the care of her local ophthalmologist. Her IOP levels gradually increased despite treatment with timolol maléate and dipivefrin and she was again referred to our institution at the age of 10 years.

On examination, her visual acuity was 20/40 OD and light perception without projection OS, with a refractive error in the right eye of -3.75 + 2.0 X 170°. She had a relative afferent pupillary defect in the left eye. On external examination, bilateral, thick, long cilia with extra rows of lashes extending onto the eyelid skin were present (Fig 1). Slit-lamp microscopic examination was remarkable for breaks in Descemet's membrane and bilateral iris stromal hypoplasia with absence of the collarette (Fig 2). Iridodonesis was present in the left eye. A persistent pupillary membrane was present, consisting of strands of fine fibrous tissue between the central iris and the anterior surface of the lens (Fig 3). The lenses were clear. Gonioscopy revealed deep and open angles in both eyes. IOP levels by Goldmann applanation tonometry were 34 mm Hg OD and 32 mm Hg OS. Dilated examination of the fundus revealed cup-to-disc ratios of 0.95 OD and 0.99 OS with very deep, pale cups. The maculae, vessels, and retinal periphery were normal. Humphrey visual field 24-2 testing in the right eye revealed dense superior and inferior arcuate defects.

General external examination was remarkable for short stature, telecanthus, a saddle nose, and hypodontia. Her skin had areas of mottling and hyperpigmentation, particularly on the extremities, abdomen, neck, and hands (Fig 4). Her ears were small with thin lobes (Fig 4). Her digits were shortened and she had dystrophic nails (Fig 5).

In addition to the Rothmund-Thomson syndrome, her medical history was significant for a history of hypothyroidism and pituitary insufficiency for which she received injections of growth hormone. She had normal intelligence. There was no family history of glaucoma, Rothmund-Thomson syndrome, nor consanguinity.

In summary, Rothmund-Thomson syndrome is a rare dermatologie condition that is often associated with ophthalmologic abnormalities. Patients with this disorder should be routinely monitored by an ophthalmologist, particularly for the development of rapidly…

INTRODUCTION

Rothmund-Thomson syndrome (RTSJ is a rare inherited disorder characterized by infantile poikiloderma, cataracts, hypogonadism, and skeletal abnormalities. Bilateral infantile glaucoma, pseudodistichiasis, iris stromal hypoplasia, and a persistent pupillary membrane are described in a patient with RTS. This is the first case of pseudodistichiasis and persistent pupillary membrane and the second case of glaucoma to be associated with RTS. The glaucoma in one eye of our patient was successfully controlled following a trabeculotomy. The ophthalmic abnormalities associated with RTS are reviewed.

CASE REPORT

The patient was diagnosed with glaucoma at age 3 years. The vision was always poor by history in the left eye. Her intraocular pressures (IOP) were 35 mm Hg OD and 29 mm Hg OS, and she had almost complete cupping of the left optic nerve. Trabeculotomies were performed in both eyes.

She was referred to our institution at age 4 years after her IOP by pneumotonometry was measured at 22 mm Hg OD and 35 mm Hg OS. An examination under anesthesia was performed, at which time her IOP by Perkins tonometry was 10 mm Hg and 17 mm Hg OS. Cycloplegic refraction revealed an error of -3.0 + 1.5 x 90° OD and - 4.5 sphere OS. Corneal diameters were 10.5 mm OU and breaks in Descemet membrane were found. Gonioscopy revealed normal angles in both eyes and slit-lamp microscopic examination showed iris stromal hypoplasia with prominent iris vessels. Her cup-to-disc ratio was 0.50 OD and 0.95 OS. Because her IOP levels were normal, she was referred back to the care of her local ophthalmologist. Her IOP levels gradually increased despite treatment with timolol maléate and dipivefrin and she was again referred to our institution at the age of 10 years.

On examination, her visual acuity was 20/40 OD and light perception without projection OS, with a refractive error in the right eye of -3.75 + 2.0 X 170°. She had a relative afferent pupillary defect in the left eye. On external examination, bilateral, thick, long cilia with extra rows of lashes extending onto the eyelid skin were present (Fig 1). Slit-lamp microscopic examination was remarkable for breaks in Descemet's membrane and bilateral iris stromal hypoplasia with absence of the collarette (Fig 2). Iridodonesis was present in the left eye. A persistent pupillary membrane was present, consisting of strands of fine fibrous tissue between the central iris and the anterior surface of the lens (Fig 3). The lenses were clear. Gonioscopy revealed deep and open angles in both eyes. IOP levels by Goldmann applanation tonometry were 34 mm Hg OD and 32 mm Hg OS. Dilated examination of the fundus revealed cup-to-disc ratios of 0.95 OD and 0.99 OS with very deep, pale cups. The maculae, vessels, and retinal periphery were normal. Humphrey visual field 24-2 testing in the right eye revealed dense superior and inferior arcuate defects.

General external examination was remarkable for short stature, telecanthus, a saddle nose, and hypodontia. Her skin had areas of mottling and hyperpigmentation, particularly on the extremities, abdomen, neck, and hands (Fig 4). Her ears were small with thin lobes (Fig 4). Her digits were shortened and she had dystrophic nails (Fig 5).

In addition to the Rothmund-Thomson syndrome, her medical history was significant for a history of hypothyroidism and pituitary insufficiency for which she received injections of growth hormone. She had normal intelligence. There was no family history of glaucoma, Rothmund-Thomson syndrome, nor consanguinity.

FIGURE 1: Extra rows of eyelashes exiting anterior to meibomian gland orifices and extending onto upper eyelid skin (pseudodistichiasis), right eye.

FIGURE 1: Extra rows of eyelashes exiting anterior to meibomian gland orifices and extending onto upper eyelid skin (pseudodistichiasis), right eye.

FIGURE 2: Iris stromal hypoplasia with absence of the collarette, right eye.

FIGURE 2: Iris stromal hypoplasia with absence of the collarette, right eye.

FIGURE 3: Fibrous strands extending between iris and anterior lens surface (persistent pupillary membrane), left eye.

FIGURE 3: Fibrous strands extending between iris and anterior lens surface (persistent pupillary membrane), left eye.

FIGURE 4: Mottling and hyperpigmentation of the postauricular skin and small ears with thin lobes.

FIGURE 4: Mottling and hyperpigmentation of the postauricular skin and small ears with thin lobes.

Because of the prominent glaucomatous optic atrophy and elevated IOP despite medical therapy, a trabeculotomy was performed. Schlemm's canal was identified without difficulty and confirmed by the passage of a nylon suture into the canal. Trabeculotomy pins were passed into the anterior chamber in both directions. Four weeks postoperatively, the right eye was white and quiet with an IOP of 13 mm Hg by Goldmann applanation tonometry.

DISCUSSION

The association of poikiloderma and cataracts was first described by Rothmund, a German ophthalmologist, in 1868. Similar skin findings were described in two siblings by Thomson, a British dermatologist, in 1923. 2 The disorder has since been referred to as the Rothmund-Thomson syndrome. Approximately 200 cases have been reported.3 The syndrome is inherited as an autosomal recessive disorder. The etiology of RTS is unknown.

The characteristic dermatologie abnormality associated with RTS is poikiloderma, a term used to describe skin lesions characterized by atrophy, telangiectasia, hypopigmentation, and hyperpigmentation. The skin findings usually appear during the third to sixth month of life and progress into adulthood.3 The face, extremities, and buttocks are most commonly affected. Other systemic features of the syndrome include alopecia, dystrophic teeth and nails, growth retardation, hypogonadism, bony malformations (including small hands and feet), and a high incidence of cutaneous and noncutaneous malignancies.3 A typical facies with frontal bossing, prognathism, and saddle nose may be seen. Most patients have normal intelligence and a normal life span. Our patient demonstrated many of these abnormalities.

Ocular abnormalities are found in approximately 50% of patients with RTS. The most common abnormality is bilateral cataract, which develops in 50% of patients by age 13 years.3 The onset is typically between 2 and 6 years. A remarkably rapid progression has been noted in several patients.4 In most families, the finding of cataracts in one sibling is predictive of cataracts in other affected siblings.3 Our patient had normal lenses.

Previously reported abnormalities of the eyelashes in patients with RTS include their absence4·5 and trichiasis with secondary conjunctival and corneal irritation.6 Multiple rows of thick eyelashes exiting anterior to the meibomian orifices, as seen in our patient, have not been previously described. Howard and Wilson have referred to this type of eyelash anomaly as pseudodistichiasis.7 This distinguishes the disorder from trichiasis, in which normal eyelashes are misdirected; and distichiasis, in which abnormal eyelashes originate from the meibomian glands. Similar, but not identical, abnormalities have been reported in other children with dermatologie disorders. Howard and Wilson reported a patient with anhidrotic ectodermal dysplasia who had a double row of eyelashes.7 Frederick and Robb reported a patient with facial ectodermal dysplasia who had multiple rows of eyelashes along the upper eyelids.8

Glaucoma has been previously documented in one patient with RTS. Nathanson et al9 reported on an 18-year-old man with cupped discs and open angles whose IOP was not controlled with medical therapy. He responded to a "trabeculotomy-ectomy" with "satisfactory results." It is possible that the patient Thomson10 described in 1936 with high myopia, partial optic atrophy, and restricted visual fields also had glaucoma. The failure to control the IOP with topical medications and the good response to surgery, as seen in both our patient and the patient reported by Nathanson, is typical of infantile and juvenile glaucoma.11

Abnormal irides have been reported previously in patients with RTS. This abnormality was associated with glaucoma in the patient of Nathanson et al,9 and in two patients with cataracts described by Kirkham and Werner.4 These patients all demonstrated anterior iris stromal hypoplasia, particularly in the region of the sphincter muscle, and absence of the collarette. A persistent pupillary membrane has not been previously reported.

A number of other ocular abnormalities have been reported in patients with RTS.12 Corneal anomalies include band keratopathy, keratoconus, sclerocornea, and microcornea.4,5,13 The observation that our patient had breaks in Descemet membrane without enlarged corneal diameters suggests that she may originally have had microcornea and that the corneas enlarged because of glaucoma, resulting in breaks in Descemet's membrane. Other anomalies in RTS include iris and chorioretinal colobomas, microphthalmos, blue sclerae, and tapetoretinal degeneration.5,6,13

FIGURE 5: Abnormal hands demonstrating shortened digits, dry skin, and dystrophic nails.

FIGURE 5: Abnormal hands demonstrating shortened digits, dry skin, and dystrophic nails.

In summary, Rothmund-Thomson syndrome is a rare dermatologie condition that is often associated with ophthalmologic abnormalities. Patients with this disorder should be routinely monitored by an ophthalmologist, particularly for the development of rapidly progressive cataracts. In light of the association with glaucoma, measurement of IOP and careful evaluation of the optic discs is also advised.

REFERENCES

1. Rothmund A. Ueber cataracten in Verbindung mit einer eigenthümlichen hautdegeneration. Grae/e's Arch Ophthalmol. 1868;l4:159-182.

2. Thomson MS. An hitherto undescribed familial disease. British Journal of Dermatology and Syphilis. 1923;35:455-462.

3. Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome: review of the world literature, JAm AcadDermatol. 1992;27:750-762.

4. Kirkham TH, Werner EB. The ophthalmic manifestations of Hothmund's syndrome. Can J Ophthalmol. 1975;10:1-13.

5. Wahl JW, Ellis PP. Rothmund-Thomson syndrome. Am J Ophthalmol. 1965;60:722-726.

6. Haneke E, Gutschmidt E. Warty hyperkeratosis, cellular immune defect, and tapetoretinal degeneration in poikiloderma congenitale. Dermatologica. 1976; 152:33 1-336.

7. Howard GR, Wilson ME. Pseudodistichiasis as a manifestation of anhidrotic ectodermal dysplasia. J Pediatr Ophthalmol Strabismus. 1993;30:204-205.

8. Frederick DR, Robb RM. Ophthalmic manifestations of Setleis forceps marks syndrome: a case report. J Pediatr Ophthalmol Strabismus. 1992;29:127-129.

9. Nathanson M, Dandine M, Gaudelus J, Mousset S, Lasry D, Perelman R. Syndrome de Rothmund-Thomson avec glaucome. Ann Pediatr Parisi. I9S3;30:520-525.

10. Thomson MS. Poikiloderma congenitale. British Journal of Dermatology and Syphilis. 1936;48:22 1-234.

11. Kass MA, Hoskins HDJr, eds. Becker-Shaffer's Diagnosis and Therapy of the Glaucomas, 6th ed. St Louis, Mo: CV Mosby; 1989.

12. Lueder GT, Krafchik BR. Dermatology. In: Levin A, ed. The Eye in Pediatrie Systemic Disease. Philadelphia, Pa: Mosby Year Book. In press.

13. Collins P, Barnes L, McCabe M. Poikiloderma congénitale: case report and review of the literature. Pediatr Dermatol. 1991;8:58-60.

10.3928/0191-3913-19950301-18

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